Clinical features of developmental and epileptic encephalopathy caused by <i>KCNQ2</i> gene mutation-Reference-Cited by-同舟云学术

Clinical features of developmental and epileptic encephalopathy caused by <i>KCNQ2</i> gene mutation

Published:2023-12-22 Issue:4 Volume:15 Page:354-360
ISSN:2311-4088
Container-title:Epilepsy and paroxysmal conditions
language:
Short-container-title:Èpilepsiâ paroksizmalʹnye sostoâ.

Author:

Malov А. G.¹^ORCID,Kalashnikova Т. P.¹^ORCID,Vdovina N. А.²

Affiliation:

1. Vagner Perm State Medical University

2. Pichugin Children Clinical Hospital

Abstract

Current classification of epileptic syndromes proposed in 2022 by the International League Against Epilepsy, developmental and epileptic encephalopathy (DEE) caused by mutation in the KCNQ2 gene is identified as an independent nosological form. Alternative names for this disease are DEE type 7 or early infantile epileptic encephalopathy type 7 (OMIM: 613720). The article presents a brief literature review on the topic as well as our personal clinical observation of this rare pathology.

Publisher

IRBIS

Subject

Neurology (clinical),Neurology

Reference17 articles.

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