Zh Nevrol Psikhiatr Im S S Korsakova
November 2019
Objective: To study clinical and neurophysiological data of early infantile epileptic encephalopathy type 14 caused by KCNT1 mutations.
Material And Methods: For the period 2017 to 2019, 3 non-relative girls with clinical characteristics of epilepsy of infancy with migrating focal seizures (EIMFS) and mutations in the KCNT1 gene are identified and studied. DNA sequencing was performed using the Hereditary epilepsy panel (Next Generation Sequencing on platform IlluminaNextSeq 500, USA).
Zh Nevrol Psikhiatr Im S S Korsakova
April 2020
A clinical case of familial temporal epilepsy type 5 (OMIM 614417) with onset at the age of 14 years is described for the first time in the domestic literature. The leading manifestations of the disease were focal seizures of systemic vertigo, accompanied by vestibular ataxia and, sometimes, vomiting. Cognitive and emotional disturbances were observed as well.
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