Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.

Leduc-Pessah, Heather; White-Brown, Alexandre; Miller, Elka; McMillan, Hugh J; Boycott, Kym M

Leduc-Pessah, Heather; White-Brown, Alexandre; Miller, Elka; McMillan, Hugh J; Boycott, Kym M.

Afiliación

Leduc-Pessah H; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
White-Brown A; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Miller E; Department of Radiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
McMillan HJ; Department of Medical Imaging, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Boycott KM; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

Am J Med Genet A ; 191(12): 2878-2883, 2023 12.

Article en En | MEDLINE | ID: mdl-37621218

Asunto(s)

Lisencefalias Clásicas y Heterotopias Subcorticales en Banda; Epilepsia; Lisencefalia; Masculino; Humanos; Lisencefalia/diagnóstico por imagen; Lisencefalia/genética; Encéfalo/diagnóstico por imagen; Mutación Missense; Proteínas del Citoesqueleto/genética; Proteínas de Fusión Oncogénica

Palabras clave

CEP85L; lissencephaly; neuronal migration disorder; pachygyria; posterior lissencephaly

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epilepsia / Lisencefalia / Lisencefalias Clásicas y Heterotopias Subcorticales en Banda Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article

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