Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1

Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1

Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal (RMFSL) (OMIM# 614498) is a rare and recently characterized epileptic encephalopathy that is related to variants in the BRAT1 gene (Breast Cancer 1-associated ataxia telangiectasia mutated activation-1 protein). In this report, an RMFSL case,...

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Bibliographic Details
Main Authors: Yalcin Celik, Cetin Okuyaz, Ali Ertug Arslankoylu, Serdar Ceylaner
Format: Article
Language:English
Published: Elsevier 2017-01-01
Series:Epilepsy and Behavior Case Reports
Subjects:
BRAT1
Neonatal
Seizure
Rigidity
Online Access:http://www.sciencedirect.com/science/article/pii/S2213323216301037

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http://www.sciencedirect.com/science/article/pii/S2213323216301037

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