Myoclonic Status Epilepticus in TBC1D24-Related Developmental/Epileptic Encephalopathy (DEE)-Reference-Cited by-同舟云学术

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Myoclonic Status Epilepticus in TBC1D24-Related Developmental/Epileptic Encephalopathy (DEE)

Published:2023-05-10 Issue:05 Volume:54 Page:356-358
ISSN:0174-304X
Container-title:Neuropediatrics
language:en
Short-container-title:Neuropediatrics

Author:

Manokaran Ranjith Kumar¹,Patel Jaina¹,Sharma Suvasini¹²,Ochi Ayako¹,Jain Puneet¹

Affiliation:

1. Division of Neurology, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada

2. Neurology Division, Department of Pediatrics, Lady Harding Medical College and Kalawati Saran Children Hospital, Delhi University, New Delhi, India

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/a-2090-5922.pdf

Reference4 articles.

1. Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria;K Nykamp;Genet Med,2017

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;S Richards;Genet Med,2015

3. Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations;J Zhang;Seizure,2019

4. TBC1D24 genotype-phenotype correlation: epilepsies and other neurologic features;S Balestrini;Neurology,2016

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