The influence of genetics on epilepsy syndromes in infancy and childhood

被引:3
|
作者
Yozawitz, Elissa [1 ,2 ,3 ,4 ,5 ]
Moshe, Solomon L. [1 ,2 ,3 ,4 ,5 ,6 ]
机构
[1] Albert Einstein Coll Med, Isabelle Rapin Div Child Neurol, Bronx, NY 10467 USA
[2] Albert Einstein Coll Med, Saul R Korey Dept Neurol, Bronx, NY 10467 USA
[3] Albert Einstein Coll Med, Dept Pediat, Bronx, NY 10467 USA
[4] Albert Einstein Coll Med, Lab Dev Epilepsy, Bronx, NY 10461 USA
[5] Albert Einstein Coll Med, Comprehens Einstein Montefiore Epilepsy Ctr, Bronx, NY 10467 USA
[6] Albert Einstein Coll Med, Dominick P Purpura Dept Neurosci, Rose F Kennedy Ctr, 1410 Pelham Pkwy South,Kennedy Ctr Rm 316, Bronx, NY 10461 USA
来源
ACTA EPILEPTOLOGICA | 2022年 / 4卷 / 01期
基金
美国国家卫生研究院;
关键词
Syndrome; Epilepsy syndrome; Genetics; History of epilepsy genetics; ILAE history; DE-NOVO MUTATIONS; ILAE COMMISSION; POSITION PAPER; SEIZURES; CLASSIFICATION; ENCEPHALOPATHY; PHENOTYPES; FEATURES; GENES;
D O I
10.1186/s42494-022-00110-3
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Genetics is rapidly evolving and is actively playing a role in how we diagnose and manage epilepsy. The definition of an epilepsy syndrome has changed throughout the years. The International League Against Epilepsy (ILAE) has developed a classification of the epilepsies and has recently described specific epilepsy syndromes taking into account emerging genetic information which is rapidly evolving as well as etiology-specific syndromes. Understanding genetics can help clarify the syndrome and its treatment. This review provides a history of the definition of a syndrome, and the evolving contribution of genetic information that is part of the syndromic classification. We provide few examples of several phenotypes/genotypes of epilepsy syndromes in infancy and childhood and treatment issues that may arise from the available genetic information. Epilepsy syndromes and their genetics have been rapidly changing as new gene technologies are being developed. Understanding genetics can help clarify the syndrome, its treatment, and will help change the field of epilepsy to improve patients qualify of life by creating new means of preventing, controlling, and curing epilepsy.
引用
收藏
页数:10
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