Comparative Analysis of Therapy Outcomes in Patients With West Syndrome Receiving Tetraсosactidе and Other Antiepileptic Drugs

Фарносова, М. Е.; Gamirova, Rimma

doi:10.17650/2073-8803-2017-12-3-44-50

Rus. ž. det. nevrol.

2017

DOI: 10.17650/2073-8803-2017-12-3-44-50

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Comparative Analysis of Therapy Outcomes in Patients With West Syndrome Receiving Tetraсosactidе and Other Antiepileptic Drugs

М. Е. Фарносова¹,

Rimma Gamirova²

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2020

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Cited by 1 publication

References 23 publications

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Kleefstra syndrome and epilepsy

Gamirova

Люкшина²,

Фарносова³

2020

Rus. ž. det. nevrol.

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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 diffuse muscular hypotonia, micro-brachycephaly, congenital defects of heart, kidneys, genitourinary tract and recognizable dysmorphic features of face. The article presents 2 similar clinical cases of Kleefstra syndrome in combination with epilepsy. Both patients, along with a typical clinical picture of the underlying disease, have serial epileptic spasms with an onset after first year of life, modified hypsarrhythmia with tendency to synchronization on the electroencephalogram, pharmacoresistant epilepsy. This indicates that Kleefstra syndrome can include epilepsy as one of symptoms of the disease.

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Kleefstra syndrome and epilepsy

Gamirova

Люкшина²,

Фарносова³

2020

Rus. ž. det. nevrol.

Self Cite

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Comparative Analysis of Therapy Outcomes in Patients With West Syndrome Receiving Tetraсosactidе and Other Antiepileptic Drugs

Cited by 1 publication

References 23 publications

Kleefstra syndrome and epilepsy

Kleefstra syndrome and epilepsy

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