The neuropathological findings of developmental and epileptic encephalopathy-43 (DEE43) and delineation of a the molecular spectrum of novel case-Reference-Cited by-同舟云学术

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The neuropathological findings of developmental and epileptic encephalopathy-43 (DEE43) and delineation of a the molecular spectrum of novel case

Published:2021-12 Issue: Volume:93 Page:75-80
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

Mierzewska Hanna,Laure-Kamionowska Milena,Jezela-Stanek Aleksandra,Rydzanicz Małgorzata,Płoski Rafał,Szczepanik Elżbieta

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology,General Medicine

Reference13 articles.

1. On the specific age dependent epileptic syndrome: the early-infantile epileptic encephalopathy with suppression-burst;Ohtahara;No To Hattatsu,1976

2. Consortium and epilepsy phenome/genome project. De novo mutations in epileptic encephalopathies;Nature,2013

3. De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies;Am J Hum Genet,2016

4. Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?;Płoski;Circ Res,2014

5. VarSome: the human genomic variant search engine;Kopanos;Bioinformatics,2019

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Established and emerging GABAA receptor pharmacotherapy for epilepsy;Frontiers in Pharmacology;2024-02-21

2. GABA_A receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants;Journal of Neurochemistry;2023-08-24

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