Biallelic <i>SCN10A</i> mutations in neuromuscular disease and epileptic encephalopathy.

Kambouris, Marios; Thevenon, Julien; Soldatos, Ariane; Cox, Allison; Stephen, Joshi; Ben-Omran, Tawfeg; Al-Sarraj, Yasser; Boulos, Hala; Bone, William; Mullikin, James C; Masurel-Paulet, Alice; St-Onge, Judith; Dufford, Yannis; Chantegret, Corrine; Thauvin-Robinet, Christel; Al-Alami, Jamil; Faivre, Laurence; Riviere, Jean Baptiste; Gahl, William A; Bassuk, Alexander G; Malicdan, May Christine V; El-Shanti, Hatem

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

Kambouris, Marios; Thevenon, Julien; Soldatos, Ariane; Cox, Allison; Stephen, Joshi; Ben-Omran, Tawfeg; Al-Sarraj, Yasser; Boulos, Hala; Bone, William; Mullikin, James C; Masurel-Paulet, Alice; St-Onge, Judith; Dufford, Yannis; Chantegret, Corrine; Thauvin-Robinet, Christel; Al-Alami, Jamil; Faivre, Laurence; Riviere, Jean Baptiste; Gahl, William A; Bassuk, Alexander G; Malicdan, May Christine V; El-Shanti, Hatem.

Afiliação

Kambouris M; Pathology-Genetics Sidra Medical and Research Center Doha Qatar; Qatar Biomedical Research Institute Medical Genetics Center Hamad Bin Khalifa University Doha Qatar; Genetics Yale University School of Medicine New Haven Chicago.
Thevenon J; Centre de Génétique Hôpital d'Enfant Dijon France.
Soldatos A; Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland; Undiagnosed Diseases Program National Human Genome Research Institute National Institutes of Health Bethesda Maryland.
Cox A; Pediatrics University of Iowa Iowa City Iowa.
Stephen J; Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland.
Ben-Omran T; Clinical and Metabolic Genetics Pediatrics Hamad Medical Corporation Doha Qatar; Weill Cornell Medical College Doha Qatar.
Al-Sarraj Y; Qatar Biomedical Research Institute Medical Genetics Center Hamad Bin Khalifa University Doha Qatar.
Boulos H; Human Genetics University of Chicago Chicago Illinois.
Bone W; Undiagnosed Diseases Program National Human Genome Research Institute National Institutes of Health Bethesda Maryland.
Mullikin JC; Intramural Sequencing Center and Comparative Genomics Unit Genome Technology Branch National Genome Research Institute National Institutes of Health Bethesda Maryland.
Masurel-Paulet A; Centre de Génétique Hôpital d'Enfant Dijon France.
St-Onge J; Centre de Génétique Hôpital d'Enfant Dijon France.
Dufford Y; Centre de Génétique Hôpital d'Enfant Dijon France.
Chantegret C; Centre de Génétique Hôpital d'Enfant Dijon France.
Thauvin-Robinet C; Centre de Génétique Hôpital d'Enfant Dijon France.
Al-Alami J; Shafallah Medical Genetics Center Doha Qatar.
Faivre L; Centre de Génétique Hôpital d'Enfant Dijon France.
Riviere JB; Centre de Génétique Hôpital d'Enfant Dijon France.
Gahl WA; Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland; Undiagnosed Diseases Program National Human Genome Research Institute National Institutes of Health Bethesda Maryland.
Bassuk AG; Pediatrics University of Iowa Iowa City Iowa.
Malicdan MC; Undiagnosed Diseases Program National Human Genome Research Institute National Institutes of Health Bethesda Maryland.
El-Shanti H; Qatar Biomedical Research Institute Medical Genetics Center Hamad Bin Khalifa University Doha Qatar; Pediatrics University of Iowa Iowa City Iowa; Pediatrics University of Jordan Amman Jordan.

Ann Clin Transl Neurol ; 4(1): 26-35, 2017 01.

Article em En | MEDLINE | ID: mdl-28078312

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2017 Tipo de documento: Article