HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES

HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES

The authors provide a review of the clinical and genetic characteristics of hereditary diseases and syndromes accompanied by febrile convulsions, which is illustrated by examples of their own observations. The paper sets forth the possibilities and limitations of using current methods for the molecu...

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Detalhes bibliográficos
Principais autores: E. L. Dadali, A. A. Sharkov, I. V. Sharkova, I. V. Kanivets, F. A. Konovalov, I. A. Akimova
Formato: Artigo
Idioma:Russian
Publicado em: ABV-press 2016-08-01
coleção:Русский журнал детской неврологии
Assuntos:
febrile convulsions
hereditary syndromes
early epileptic encephalopathies
generalized epilepsies with febrile seizures plus
idiopathic epilepsies
symptomatic epilepsies
new-generation exome sequencing
chromosomal microarray analysis
Acesso em linha:https://rjdn.abvpress.ru/jour/article/view/151

Internet

https://rjdn.abvpress.ru/jour/article/view/151

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