Literature DB >> 27544470

The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.

Rolla Shbarou1, Mohamad A Mikati2.   

Abstract

Pediatric epileptic encephalopathies represent a clinically challenging and often devastating group of disorders that affect children at different stages of infancy and childhood. With the advances in genetic testing and neuroimaging, the etiologies of these epileptic syndromes are now better defined. The various encephalopathies that are reviewed in this article include the following: early infantile epileptic encephalopathy or Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, West syndrome, severe myoclonic epilepsy in infancy (Dravet syndrome), Landau-Kleffner syndrome, Lennox-Gastaut syndrome, and epileptic encephalopathy with continuous spike-and-wave during sleep. Their clinical features, prognosis as well as underlying genetic etiologies are presented and updated.
Copyright © 2016. Published by Elsevier Inc.

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Year:  2016        PMID: 27544470     DOI: 10.1016/j.spen.2016.06.002

Source DB:  PubMed          Journal:  Semin Pediatr Neurol        ISSN: 1071-9091            Impact factor:   1.636


  4 in total

1.  West Syndrome Caused By a Chloride/Proton Exchange-Uncoupling CLCN6 Mutation Related to Autophagic-Lysosomal Dysfunction.

Authors:  Hailan He; Xiaoshuang Cao; Fei Yin; Tenghui Wu; Tobias Stauber; Jing Peng
Journal:  Mol Neurobiol       Date:  2021-02-16       Impact factor: 5.590

Review 2.  Modeling epileptic spasms during infancy: Are we heading for the treatment yet?

Authors:  Libor Velíšek; Jana Velíšková
Journal:  Pharmacol Ther       Date:  2020-05-15       Impact factor: 12.310

3.  The GABRG2 F343L allele causes spontaneous seizures in a novel transgenic zebrafish model that can be treated with suberanilohydroxamic acid (SAHA).

Authors:  Dingding Shen; Juan Chen; Dong Liu; Mi Shen; Xin Wang; Youjia Wu; Shuan Ke; Robert L Macdonald; Qi Zhang
Journal:  Ann Transl Med       Date:  2020-12

4.  Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies.

Authors:  Dan Sun; Yan Liu; Wei Cai; Jiehui Ma; Kun Ni; Ming Chen; Cheng Wang; Yongchu Liu; Yuanyuan Zhu; Zhisheng Liu; Feng Zhu
Journal:  Front Pediatr       Date:  2021-05-13       Impact factor: 3.418

  4 in total

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