CHD2 Geninde Denovo Heterozigot Yeni Bir Mutasyonun Saptandığı Bir Epileptik Ensefalopati Olgusu

Öz

Epileptik ensefalopatiler (EE), çoklu nöbet tipleri, gelişimsel gecikme ve hatta gerileme ile karakterize ciddi epilepsi sendromlarıdır. CHD2'deki (kromodomain sarmal DNA bağlayıcı protein 2) patojenik varyantlar, epileptik ensefalopatilerde ve ayrıca zihinsel engellilikten atonik-miyoklonik epilepsiye kadar değişen fenotipik değişkenlik spektrumuna sahip nörogelişimsel bozukluklarda bildirilmiştir. Biz bu olgu sunumunda oğul, erkek kardeş ve anneden oluşan kalıtsal bir patojenik CHD2 varyantı ailesini rapor ediyoruz. Bu vaka, aile içinde aynı CHD2 mutasyonu ile oluşan fenotipik heterojeniteyi gösterir ve CHD2 ile ilişkili nörogelişimsel bozuklukların potansiyel kalıtsallığını doğrular.

Anahtar Kelimeler

• Epileptik ensefalopati
• CHD2
• Nörogelişimsel Bozukluklar

A Case of Epileptic Encephalopathy with a New Denovo Heterozygous Mutation in the CHD2 Gene

Öz

Epileptic encephalopathies (EE) are severe epilepsy syndromes characterized by multiple seizure types, developmental delay and even regression. Pathogenic variants in CHD2 (chromodomain helicase DNA-binding protein 2) have been reported in epileptic encephalopathies and also neurodevelopmental disorders with spectrum of phenotypic variability, ranging from intellectual disability to atonic-myoclonic epilepsy. Here, we report a family of an inherited pathogenic CHD2 variant in affected son, brother and mother. This case demonstrates intrafamilial phenotypic heterogeneity and confirms potential heritability of CHD2-related neurodevelopmental disorders.

Anahtar Kelimeler

• Epileptic encephalopathy
• CHD2
• Neurodevelopmental Disorder

Kaynakça

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