Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in <i>DNM1</i>.

AlTassan, Ruqaiah; AlQudairy, Hanan; Alromayan, Rakan; Alfalah, Abdullah; AlHarbi, Omar A; González-Álvarez, Ana C; Arold, Stefan T; Kaya, Namik

Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.

AlTassan, Ruqaiah; AlQudairy, Hanan; Alromayan, Rakan; Alfalah, Abdullah; AlHarbi, Omar A; González-Álvarez, Ana C; Arold, Stefan T; Kaya, Namik.

Afiliação

AlTassan R; Department of Medical Genomics, Centre for Genomic Medicine, MBC: 75, P.O. Box 3354, King Faisal Specialist Hospital, and Research Centre, Riyadh 11211, Saudi Arabia.
AlQudairy H; College of Medicine, P.O. Box 50927, AlFaisal University, Riyadh 11533, Saudi Arabia.
Alromayan R; Translational Genomic Department, Centre for Genomic Medicine, MBC: 03, P.O. Box 3354, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Alfalah A; Translational Genomic Department, Centre for Genomic Medicine, MBC: 03, P.O. Box 3354, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
AlHarbi OA; College of Medicine, King Saud University, Riyadh 11451, Saudi Arabia.
González-Álvarez AC; Department of Medical Genomics, Centre for Genomic Medicine, MBC: 75, P.O. Box 3354, King Faisal Specialist Hospital, and Research Centre, Riyadh 11211, Saudi Arabia.
Arold ST; Department of Radiology, MBC: 28, P.O. Box 3354, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Kaya N; Bioengineering Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.

Genes (Basel) ; 13(12)2022 11 30.

Article em En | MEDLINE | ID: mdl-36553519

Assuntos

Epilepsia Generalizada; Epilepsia; Feminino; Humanos; Dinamina I/genética; Epilepsia/genética; Homozigoto; Mutação

Palavras-chave

DNM1; Sanger sequencing; developmental delay; epileptic encephalopathy; homozygous; intellectual disability; loss of function; novel deleterious variant; whole-exome sequencing (WES)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada / Epilepsia Tipo de estudo: Prognostic_studies Limite: Female / Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Arábia Saudita

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