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Clinical features and genetic analysis of developmental and epileptic encephalopathy caused by biallelic variants of CACNA1B

Objective: To analyze the clinical features and genetic etiology of a patient with developmental and epileptic encephalopathy. Methods: The clinical information and peripheral blood of the patient and their family members were collected before the whole exome sequencing analysis was performed and Sa...

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Principais autores: Xin-you Yu, Qing-mei Sun, Rui-ping Lu, Bo Wei, Xiao-yan Wang, Li-hua Pan
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2024-06-01
Serier:Heliyon
Fag:
CACNA1B gene
Epilepsy
Developmental and epileptic encephalopathy
Neurodevelopmental disorders
Whole exome sequencing
Online adgang:http://www.sciencedirect.com/science/article/pii/S2405844024087243
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