Epilepsy with eyelid myoclonia with atonic seizures and generalized paroxysmal fast activity: A novel electroclinical phenotype associated with SETD1B pathogenic variant.

Ng, Vanessa Hwee Ling; Hart, Francesca; Kothur, Kavitha; Buckley, Michael; Harb, Clare; Gill, Deepak

Ng, Vanessa Hwee Ling; Hart, Francesca; Kothur, Kavitha; Buckley, Michael; Harb, Clare; Gill, Deepak.

Afiliação

Ng VHL; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Hart F; NSW Health Pathology Genomics Laboratory, Prince of Wales Hospital, Randwick, New South Wales, Australia.
Kothur K; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Buckley M; University of Sydney, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Harb C; Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Gill D; NSW Health Pathology Genomics Laboratory, Prince of Wales Hospital, Randwick, New South Wales, Australia.

Epileptic Disord ; 26(2): 250-253, 2024 Apr.

Article em En | MEDLINE | ID: mdl-38108116

Assuntos

Epilepsia Tipo Ausência; Epilepsia Generalizada; Epilepsia; Mioclonia; Humanos; Eletroencefalografia; Epilepsia/genética; Epilepsia Generalizada/genética; Pálpebras/patologia; Mioclonia/genética; Fenótipo; Convulsões/genética; Histona-Lisina N-Metiltransferase/genética

Palavras-chave

Epilepsy with Eyelid Myoclonia; Etiology: genetic disorder; Localization: not applicable; Phenomenology: atonic seizure (drop attack), head deviation, staring; Syndrome: Jeavons syndrome

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada / Epilepsia Tipo Ausência / Epilepsia / Mioclonia Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google