Kleefstra syndrome and epilepsy

Kleefstra syndrome and epilepsy

Kleefstra syndrome is a rare autosomal dominant genetic disorder caused by haploinsufficiency of the EHMT1 (Euchromatic Histone MethylTransferase 1). Patients with Kleefstra syndrome have following most common symptoms: moderate or severe intellectual deficiency, absence of speech, significant diffu...

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Bibliographic Details
Main Authors: R. G. Gamirova, N. G. Lyukshina, R. R. Gamirova, M. E. Farnosova
Format: Article
Language:Russian
Published: ABV-press 2020-05-01
Series:Russkij Žurnal Detskoj Nevrologii
Subjects:
kleefstra syndrome
epilepsy
epileptic spasms
gene ehmt1
clinical case
Online Access:https://rjdn.abvpress.ru/jour/article/view/316

Internet

https://rjdn.abvpress.ru/jour/article/view/316

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