A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay.

Özkan Kart, Pinar; Citli, Senol; Yildiz, Nihal; Cansu, Ali

Özkan Kart, Pinar; Citli, Senol; Yildiz, Nihal; Cansu, Ali.

Afiliación

Özkan Kart P; Faculty of Medicine, Department of Pediatric Neurology, Farabi Hospital, Karadeniz Technical University, Trabzon, Türkiye.
Citli S; Faculty of Medicine, Department of Medical Genetics, Recep Tayyip Erdogan University, Rize, Türkiye.
Yildiz N; Faculty of Medicine, Department of Pediatric Neurology, Farabi Hospital, Karadeniz Technical University, Trabzon, Türkiye.
Cansu A; Faculty of Medicine, Department of Pediatric Neurology, Farabi Hospital, Karadeniz Technical University, Trabzon, Türkiye. Electronic address: acansu2011@hotmail.com.

Brain Dev ; 45(5): 300-305, 2023 May.

Article en En | MEDLINE | ID: mdl-36759255

Asunto(s)

Epilepsias Mioclónicas; Microcefalia; Malformaciones del Sistema Nervioso; Atrofias Olivopontocerebelosas; Femenino; Humanos; Niño; Microcefalia/genética; Atrofias Olivopontocerebelosas/genética; Malformaciones del Sistema Nervioso/genética; Mutación/genética

Palabras clave

Myoclonic seizures; Novel INPP4A mutation; Pontocerebellar hypoplasia; WES

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofias Olivopontocerebelosas / Epilepsias Mioclónicas / Microcefalia / Malformaciones del Sistema Nervioso Límite: Child / Female / Humans Idioma: En Revista: Brain Dev Año: 2023 Tipo del documento: Article

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