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Article

CSMD1 as a causative gene of developmental and epileptic encephalopathy and generalized epilepsies

29 Nov 2024

Abstract excerpt

Genetic factors are the major causes of epilepsies, such as developmental and epileptic encephalopathy (DEE) and idiopathic generalized epilepsy (IGE). However, the etiology of most patients remains elusive. This study performed exon sequencing in a cohort of 173 patients with IGE. Additional cases were recruited from the matching platform in China. The excess and damaging effect of variants, the...

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PMID: 40330149
DOI: 10.1016/j.gendis.2024.101473

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