Epilepsy with electrical status epilepticus during slow-wave sleep with a focus on electroencephalographic criteria

Мухин, К. Ю.; Глухова, Л. Ю.; Макиевская, Е. Р.

doi:10.17650/2073-8803-2017-12-1-21-35

Cited by 6 publications

(1 citation statement)

References 22 publications

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“…Кроме того, уязвимым, с нашей точ-ки зрения, является утверждение, что «определение эпилепсии требует возникновения хотя бы 1 эпилеп-тического приступа». Также очевидно, что данная де-финиция не применима к некоторым педиатрическим эпилептическим синдромам, в частности Ландау-Клеффнера и эпилепсии с электрическим эпилепти-ческим статусом медленного сна, при которых диагноз эпилепсии может быть установлен и при отсутствии эпилептических приступов [22,23].…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

Definition and classification of epilepsy. Classification of epileptic seizures 2016

Мухин¹

2017

Rus. ž. det. nevrol.

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Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

Definition and classification of epilepsy. Classification of epileptic seizures 2016

Мухин¹

2017

Rus. ž. det. nevrol.

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Epileptiform activity index for the evaluation of treatment efficacy in patients with epileptic encephalopathy

2019

Z. nevrol. psikhiatr. im. S.S. Korsakova

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Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations

Мухин¹,

Пылаева²,

Бобылова³

et al. 2021

Rus. ž. det. nevrol.

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The disease caused by mutations in the CDKL5 gene (encoding cyclin-dependent kinase 5, CDK5) belongs to the group of early (infantile) epileptic encephalopathies caused by alterations in the genome. Currently, the disease is called “developmental encephalopathy and epileptic encephalopathy type 2”. This disorder is a complex combination of symptoms that develop due to deficiency or absence of the CDKL5 gene product, which is serine/threonine kinase. The CDKL5 gene is located on X chromosome; the disease has an X-linked dominant inheritance pattern. This literature review summarizes relevant studies analyzing the disease caused by CDKL5 gene mutations, including its genetic and epidemiological aspects, clinical manifestations, characteristics of epilepsy, principles of diagnosis, and therapeutic approaches. We present a case series of several patients with genetic disorders involving the CDKL5 gene.

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Epilepsy with electrical status epilepticus during slow-wave sleep with a focus on electroencephalographic criteria

Cited by 6 publications

References 22 publications

Definition and classification of epilepsy. Classification of epileptic seizures 2016

Definition and classification of epilepsy. Classification of epileptic seizures 2016

Epileptiform activity index for the evaluation of treatment efficacy in patients with epileptic encephalopathy

Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations

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