{"id":"https://openalex.org/W3097448175","doi":"https://doi.org/10.3389/fneur.2020.569996","title":"Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family","display_name":"Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family","publication_year":2020,"publication_date":"2020-10-29","ids":{"openalex":"https://openalex.org/W3097448175","doi":"https://doi.org/10.3389/fneur.2020.569996","mag":"3097448175","pmid":"https://pubmed.ncbi.nlm.nih.gov/33193012","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/7658625"},"language":"en","primary_location":{"id":"doi:10.3389/fneur.2020.569996","doi":"https://doi.org/10.3389/fneur.2020.569996","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fneur.2020.569996","pdf_url":"https://www.frontiersin.org/articles/10.3389/fneur.2020.569996/pdf","source":{"id":"https://openalex.org/S96975567","display_name":"Frontiers in Neurology","issn_l":"1664-2295","issn":["1664-2295"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.frontiersin.org/articles/10.3389/fneur.2020.569996/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5055190223","display_name":"Liena E. O. Elsayed","orcid":"https://orcid.org/0000-0001-5753-6760","observed_orcids":["https://orcid.org/0000-0001-5753-6760"]},"institutions":[{"id":"https://openalex.org/I106778892","display_name":"Princess Nourah bint Abdulrahman University","ror":"https://ror.org/05b0cyh02","country_code":"SA","type":"education","lineage":["https://openalex.org/I106778892"]},{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I150406212","display_name":"University of Khartoum","ror":"https://ror.org/02jbayz55","country_code":"SD","type":"education","lineage":["https://openalex.org/I150406212"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]}],"countries":["FR","SA","SD"],"is_corresponding":true,"raw_author_name":"Liena E. O. Elsayed","raw_affiliation_strings":["College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia","Faculty of Medicine, University of Khartoum, Khartoum, Sudan","Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, Paris, France","College of Medicine, Princess Nourah Bint Abdulrahman University, Saudi Arabia","Faculty of Medicine, University of Khartoum, Sudan","Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia","institution_ids":["https://openalex.org/I106778892"]},{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]},{"raw_affiliation_string":"Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724"]},{"raw_affiliation_string":"College of Medicine, Princess Nourah Bint Abdulrahman University, Saudi Arabia","institution_ids":["https://openalex.org/I106778892"]},{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]},{"raw_affiliation_string":"Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108138800","display_name":"Inaam N. Mohammed","orcid":"https://orcid.org/0000-0003-1893-8286","observed_orcids":["https://orcid.org/0000-0003-1893-8286"]},"institutions":[{"id":"https://openalex.org/I150406212","display_name":"University of Khartoum","ror":"https://ror.org/02jbayz55","country_code":"SD","type":"education","lineage":["https://openalex.org/I150406212"]}],"countries":["SD"],"is_corresponding":false,"raw_author_name":"Inaam N. Mohammed","raw_affiliation_strings":["Faculty of Medicine, University of Khartoum, Khartoum, Sudan","Faculty of Medicine, University of Khartoum, Sudan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]},{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110799282","display_name":"Ahlam A. Hamed","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150406212","display_name":"University of Khartoum","ror":"https://ror.org/02jbayz55","country_code":"SD","type":"education","lineage":["https://openalex.org/I150406212"]}],"countries":["SD"],"is_corresponding":false,"raw_author_name":"Ahlam A. A. Hamed","raw_affiliation_strings":["Faculty of Medicine, University of Khartoum, Khartoum, Sudan","Faculty of Medicine, University of Khartoum, Sudan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]},{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110444058","display_name":"Maha A. Elseed","orcid":"https://orcid.org/0000-0003-2739-2668","observed_orcids":["https://orcid.org/0000-0003-2739-2668"]},"institutions":[{"id":"https://openalex.org/I150406212","display_name":"University of Khartoum","ror":"https://ror.org/02jbayz55","country_code":"SD","type":"education","lineage":["https://openalex.org/I150406212"]}],"countries":["SD"],"is_corresponding":false,"raw_author_name":"Maha A. Elseed","raw_affiliation_strings":["Faculty of Medicine, University of Khartoum, Khartoum, Sudan","Faculty of Medicine, University of Khartoum, Sudan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]},{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015237598","display_name":"Mustafa Abdalla M Salih","orcid":"https://orcid.org/0000-0002-4379-2111","observed_orcids":["https://orcid.org/0000-0002-4379-2111"]},"institutions":[{"id":"https://openalex.org/I28022161","display_name":"King Saud University","ror":"https://ror.org/02f81g417","country_code":"SA","type":"education","lineage":["https://openalex.org/I28022161"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Mustafa A. M. Salih","raw_affiliation_strings":["Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia","Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia","institution_ids":["https://openalex.org/I28022161"]},{"raw_affiliation_string":"Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Saudi Arabia","institution_ids":["https://openalex.org/I28022161"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003533995","display_name":"Ashraf Yahia","orcid":"https://orcid.org/0000-0002-0376-8264","observed_orcids":["https://orcid.org/0000-0002-0376-8264"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I150406212","display_name":"University of Khartoum","ror":"https://ror.org/02jbayz55","country_code":"SD","type":"education","lineage":["https://openalex.org/I150406212"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I2746051580","display_name":"Universit\u00e9 Paris Sciences et Lettres","ror":"https://ror.org/013cjyk83","country_code":"FR","type":"education","lineage":["https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210092510","display_name":"National University","ror":"https://ror.org/003r3cg42","country_code":"SD","type":"education","lineage":["https://openalex.org/I4210092510"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]}],"countries":["FR","SD"],"is_corresponding":false,"raw_author_name":"Ashraf Yahia","raw_affiliation_strings":["Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan","Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France","Faculty of Medicine, University of Khartoum, Khartoum, Sudan","Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, Paris, France","Department of Biochemistry, Faculty of Medicine, National University, Sudan","Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, France","Faculty of Medicine, University of Khartoum, Sudan","Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan","institution_ids":["https://openalex.org/I4210092510"]},{"raw_affiliation_string":"Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France","institution_ids":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]},{"raw_affiliation_string":"Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724"]},{"raw_affiliation_string":"Department of Biochemistry, Faculty of Medicine, National University, Sudan","institution_ids":["https://openalex.org/I4210092510"]},{"raw_affiliation_string":"Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, France","institution_ids":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]},{"raw_affiliation_string":"Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089227799","display_name":"Rayan Abubaker","orcid":"https://orcid.org/0000-0003-2888-1359","observed_orcids":["https://orcid.org/0000-0003-2888-1359"]},"institutions":[{"id":"https://openalex.org/I150406212","display_name":"University of Khartoum","ror":"https://ror.org/02jbayz55","country_code":"SD","type":"education","lineage":["https://openalex.org/I150406212"]}],"countries":["SD"],"is_corresponding":false,"raw_author_name":"Rayan Abubaker","raw_affiliation_strings":["Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan","Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Sudan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]},{"raw_affiliation_string":"Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045148608","display_name":"Mahmoud Koko","orcid":"https://orcid.org/0000-0001-9512-0184","observed_orcids":["https://orcid.org/0000-0001-9512-0184"]},"institutions":[{"id":"https://openalex.org/I4210141865","display_name":"Hertie Institute for Clinical Brain Research","ror":"https://ror.org/04zzwzx41","country_code":"DE","type":"other","lineage":["https://openalex.org/I4210094118","https://openalex.org/I4210141865","https://openalex.org/I8087733"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Mahmoud Koko","raw_affiliation_strings":["Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, Germany","Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, Germany","institution_ids":["https://openalex.org/I4210141865"]},{"raw_affiliation_string":"Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Germany","institution_ids":["https://openalex.org/I4210141865"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024771912","display_name":"Amal S. I. Abd Allah","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150406212","display_name":"University of Khartoum","ror":"https://ror.org/02jbayz55","country_code":"SD","type":"education","lineage":["https://openalex.org/I150406212"]}],"countries":["SD"],"is_corresponding":false,"raw_author_name":"Amal S. I. Abd Allah","raw_affiliation_strings":["Faculty of Medicine, University of Khartoum, Khartoum, Sudan","Faculty of Medicine, University of Khartoum, Sudan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]},{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111739473","display_name":"Mustafa Idris Elbashir","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150406212","display_name":"University of Khartoum","ror":"https://ror.org/02jbayz55","country_code":"SD","type":"education","lineage":["https://openalex.org/I150406212"]}],"countries":["SD"],"is_corresponding":false,"raw_author_name":"Mustafa I. Elbashir","raw_affiliation_strings":["Faculty of Medicine, University of Khartoum, Khartoum, Sudan","Faculty of Medicine, University of Khartoum, Sudan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]},{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068332189","display_name":"Muntaser Eltayeb Ibrahim","orcid":"https://orcid.org/0000-0003-2242-2143","observed_orcids":["https://orcid.org/0000-0003-2242-2143"]},"institutions":[{"id":"https://openalex.org/I150406212","display_name":"University of Khartoum","ror":"https://ror.org/02jbayz55","country_code":"SD","type":"education","lineage":["https://openalex.org/I150406212"]}],"countries":["SD"],"is_corresponding":false,"raw_author_name":"Muntaser E. Ibrahim","raw_affiliation_strings":["Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan","Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Sudan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]},{"raw_affiliation_string":"Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027489586","display_name":"Alexis Brice","orcid":"https://orcid.org/0000-0002-0941-3990","observed_orcids":["https://orcid.org/0000-0002-0941-3990"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Alexis Brice","raw_affiliation_strings":["APHP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Department of genetics, Paris, France","Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, Paris, France","APHP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Department of genetics, France","Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"APHP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Department of genetics, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724"]},{"raw_affiliation_string":"APHP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Department of genetics, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009802867","display_name":"Ammar ElTahir Ahmed","orcid":"https://orcid.org/0000-0001-7553-1250","observed_orcids":["https://orcid.org/0000-0001-7553-1250"]},"institutions":[{"id":"https://openalex.org/I150406212","display_name":"University of Khartoum","ror":"https://ror.org/02jbayz55","country_code":"SD","type":"education","lineage":["https://openalex.org/I150406212"]}],"countries":["SD"],"is_corresponding":false,"raw_author_name":"Ammar E. Ahmed","raw_affiliation_strings":["Faculty of Medicine, University of Khartoum, Khartoum, Sudan","Faculty of Medicine, University of Khartoum, Sudan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]},{"raw_affiliation_string":"Faculty of Medicine, University of Khartoum, Sudan","institution_ids":["https://openalex.org/I150406212"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5006492716","display_name":"Giovanni St\u00e9vanin","orcid":"https://orcid.org/0000-0001-9368-8657","observed_orcids":["https://orcid.org/0000-0001-9368-8657","https://orcid.org/0000-0003-2770-8407"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I2746051580","display_name":"Universit\u00e9 Paris Sciences et Lettres","ror":"https://ror.org/013cjyk83","country_code":"FR","type":"education","lineage":["https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Giovanni Stevanin","raw_affiliation_strings":["APHP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Department of genetics, Paris, France","Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France","Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, Paris, France","APHP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Department of genetics, France","Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, France","Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"APHP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Department of genetics, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France","institution_ids":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"raw_affiliation_string":"Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724"]},{"raw_affiliation_string":"APHP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Department of genetics, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, France","institution_ids":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"raw_affiliation_string":"Institut du Cerveau, INSERM, CNRS, Sorbonne Universit\u00e9, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":13,"corresponding_author_ids":["https://openalex.org/A5055190223"],"corresponding_institution_ids":["https://openalex.org/I106778892","https://openalex.org/I1294671590","https://openalex.org/I150406212","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210152724"],"apc_list":{"value":2950,"currency":"USD","value_usd":2950},"apc_paid":{"value":1625,"currency":"EUR","value_usd":1752},"fwci":0.9939,"has_fulltext":true,"cited_by_count":9,"citation_normalized_percentile":{"value":0.71661238,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":97},"biblio":{"volume":"11","issue":null,"first_page":"569996","last_page":"569996"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.989300012588501,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.989300012588501,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.004100000020116568,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0026000000070780516,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hyperargininemia","display_name":"hyperargininemia","score":0.9670000076293945},{"id":"https://openalex.org/keywords/arginase-deficiency","display_name":"arginase deficiency","score":0.8629999756813049},{"id":"https://openalex.org/keywords/urea-cycle-disorders","display_name":"urea cycle disorders","score":0.8769999742507935},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8050000071525574},{"id":"https://openalex.org/keywords/homozygous-variant","display_name":"homozygous variant","score":0.847000002861023},{"id":"https://openalex.org/keywords/spastic-quadriplegia","display_name":"spastic quadriplegia","score":0.8790000081062317},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.9039999842643738},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.6959999799728394},{"id":"https://openalex.org/keywords/sudanese-family","display_name":"Sudanese family","score":0.7960000038146973},{"id":"https://openalex.org/keywords/loss-of-function","display_name":"loss of function","score":0.6010000109672546},{"id":"https://openalex.org/keywords/co-segregation","display_name":"co-segregation","score":0.6110000014305115}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8982869386672974},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.7430582046508789},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7142021059989929},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6747957468032837},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5201376080513},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4797966778278351},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4790845513343811},{"id":"https://openalex.org/C77061444","wikidata":"https://www.wikidata.org/wiki/Q595994","display_name":"Urea cycle","level":4,"score":0.4197278618812561},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4070596992969513},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.39008620381355286},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.11364907026290894},{"id":"https://openalex.org/C2777468819","wikidata":"https://www.wikidata.org/wiki/Q173670","display_name":"Arginine","level":3,"score":0.07293277978897095}],"mesh":[],"locations_count":7,"locations":[{"id":"doi:10.3389/fneur.2020.569996","doi":"https://doi.org/10.3389/fneur.2020.569996","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fneur.2020.569996","pdf_url":"https://www.frontiersin.org/articles/10.3389/fneur.2020.569996/pdf","source":{"id":"https://openalex.org/S96975567","display_name":"Frontiers in Neurology","issn_l":"1664-2295","issn":["1664-2295"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Neurology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7658625","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7658625","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Front Neurol","raw_type":"Text"},{"id":"pmid:33193012","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/33193012","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in neurology","raw_type":"Case Reports"},{"id":"pmh:oai:HAL:hal-03023311v1","doi":null,"is_oa":true,"landing_page_url":"https://hal.sorbonne-universite.fr/hal-03023311","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Frontiers in Neurology, 2020, 11, pp.569996. &#x27E8;10.3389/fneur.2020.569996&#x27E9;","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:02c139c4492e4af3bc018d811a3f5439","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/02c139c4492e4af3bc018d811a3f5439","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Frontiers in Neurology, Vol 11 (2020)","raw_type":"article"},{"id":"doi:10.60692/7xnm3-kxj06","doi":"https://doi.org/10.60692/7xnm3-kxj06","is_oa":true,"landing_page_url":"https://doi.org/10.60692/7xnm3-kxj06","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"},{"id":"doi:10.60692/nk9w0-c3q39","doi":"https://doi.org/10.60692/nk9w0-c3q39","is_oa":true,"landing_page_url":"https://doi.org/10.60692/nk9w0-c3q39","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"}],"best_oa_location":{"id":"doi:10.3389/fneur.2020.569996","doi":"https://doi.org/10.3389/fneur.2020.569996","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fneur.2020.569996","pdf_url":"https://www.frontiersin.org/articles/10.3389/fneur.2020.569996/pdf","source":{"id":"https://openalex.org/S96975567","display_name":"Frontiers in Neurology","issn_l":"1664-2295","issn":["1664-2295"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Neurology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","score":0.7300000190734863,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[{"id":"https://openalex.org/G3090673659","display_name":null,"funder_award_id":"RSP-2020/38","funder_id":"https://openalex.org/F4320321145","funder_display_name":"King Saud University"},{"id":"https://openalex.org/G4937468798","display_name":null,"funder_award_id":"H2020","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"}],"funders":[{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320321145","display_name":"King Saud University","ror":"https://ror.org/02f81g417"},{"id":"https://openalex.org/F4320323942","display_name":"Campus France","ror":"https://ror.org/04wtce741"},{"id":"https://openalex.org/F4320332999","display_name":"Horizon 2020 Framework Programme","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320337004","display_name":"Ambassade de France au Soudan","ror":null}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3097448175.pdf","grobid_xml":"https://content.openalex.org/works/W3097448175.grobid-xml"},"referenced_works_count":26,"referenced_works":["https://openalex.org/W853048328","https://openalex.org/W1501875517","https://openalex.org/W1533976004","https://openalex.org/W1583310650","https://openalex.org/W1605595752","https://openalex.org/W1934207236","https://openalex.org/W1997873534","https://openalex.org/W2023291869","https://openalex.org/W2028251957","https://openalex.org/W2038691891","https://openalex.org/W2067644252","https://openalex.org/W2140870352","https://openalex.org/W2144826207","https://openalex.org/W2154909271","https://openalex.org/W2170491580","https://openalex.org/W2198478105","https://openalex.org/W2419684803","https://openalex.org/W2517074305","https://openalex.org/W2658418929","https://openalex.org/W2802662765","https://openalex.org/W2805026191","https://openalex.org/W2806439742","https://openalex.org/W2809343036","https://openalex.org/W2897434952","https://openalex.org/W2994501895","https://openalex.org/W6681154326"],"related_works":["https://openalex.org/W4221064745","https://openalex.org/W1605595752","https://openalex.org/W2144826207","https://openalex.org/W2802662765","https://openalex.org/W3193060297","https://openalex.org/W4294383624","https://openalex.org/W2033333384","https://openalex.org/W2014485119","https://openalex.org/W3193332251","https://openalex.org/W4404558298"],"abstract_inverted_index":{"Background:":[0],"Arginases":[1],"catalyze":[2],"the":[3,7,17,22,47,79,116,123,132,160,177,180,184,206,229,232,237,241,244],"last":[4],"step":[5],"in":[6,46,52,131,159,183,186,199],"urea":[8,18],"cycle.":[9],"Hyperargininemia,":[10,248],"a":[11,56,119,126,153,217],"rare":[12],"autosomal":[13,190],"recessive":[14,191],"disorder":[15],"of":[16,25,29,61,78,96,125,168,193,219],"cycle,":[19],"presents":[20],"after":[21],"first":[23,207],"year":[24],"age":[26],"with":[27,76,188,210,240],"regression":[28,77],"milestones":[30],"and":[31,38,84,103,118,151,179,243],"evolves":[32],"gradually":[33],"into":[34],"progressive":[35],"spastic":[36,82],"quadriplegia":[37],"cognitive":[39],"dysfunction.":[40],"Genetic":[41,109],"studies":[42],"reported":[43,214],"various":[44],"mutations":[45],"ARG1":[48,133,211,249],"gene":[49,134],"that":[50],"resulted":[51],"hyperargininemia":[53,198],"due":[54],"to":[55,93],"complete":[57,174,238],"or":[58],"partial":[59],"loss":[60,218],"arginase":[62],"activity.":[63],"Case":[64],"presentation:":[65],"Five":[66],"patients":[67,99,117],"from":[68,91],"an":[69,189],"extended":[70],"highly":[71,154],"consanguineous":[72],"Sudanese":[73,208],"family":[74,171,185,209],"presented":[75],"acquired":[80],"milestones,":[81],"quadriplegia,":[83],"mental":[85],"retardation.":[86],"The":[87,143,213],"disease":[88,181],"onset":[89],"ranged":[90],"one":[92,104],"three":[94],"years":[95],"age.":[97],"Two":[98],"had":[100,106],"epileptic":[101],"seizures":[102],"patient":[105],"stereotypic":[107],"clapping.":[108],"testing":[110],"using":[111],"whole-exome":[112],"sequencing,":[113,252],"done":[114],"for":[115],"healthy":[120],"parent,":[121],"confirmed":[122,197],"presence":[124],"homozygous":[127],"novel":[128],"missense":[129,221],"variant":[130,144,178,215],"[GRCh37":[135],"(NM_001244438.1):":[136],"exon":[137],"4:":[138],"g.":[139],"131902487T>A,":[140],"c.458T>A,":[141],"p.(Val153Glu)].":[142],"was":[145],"predicted":[146],"pathogenic":[147],"by":[148,228],"five":[149,200],"algorithms":[150],"affected":[152],"conserved":[155],"amino":[156],"acid":[157],"located":[158],"protein":[161],"domain":[162],"Ureohydrolase,":[163],"Arginase":[164],"subgroup.":[165],"Sanger":[166],"sequencing":[167],"13":[169],"sampled":[170],"members":[172],"revealed":[173],"co-segregation":[175,239],"between":[176],"distribution":[182],"line":[187],"mode":[192],"inheritance.":[194],"Biochemical":[195],"analysis":[196],"patients.":[201],"Conclusion:":[202],"This":[203],"study":[204],"reports":[205],"mutation.":[212,222],"is":[216,225],"function":[220],"Its":[223],"pathogenicity":[224],"strongly":[226],"supported":[227],"clinical":[230],"phenotype,":[231],"computational":[233],"functional":[234],"impact":[235],"prediction,":[236],"disease,":[242],"biochemical":[245],"assessment.":[246],"Keywords:":[247],"gene,":[250],"Whole-exome":[251],"Sudan.":[253]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2020-11-09T00:00:00"}
