Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy-Reference-Cited by-同舟云学术

Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy

Published:2017-04-19 Issue:3 Volume:92 Page:327-331
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Ramadan W.¹,Patel N.¹,Anazi S.¹,Kentab A.Y.²,Bashiri F.A.²,Hamad M.H.²,Jad L.³,Salih M.A.²,Alsaif H.¹,Hashem M.¹,Faqeih E.³,Shamseddin H.E.¹,Alkuraya F.S.¹⁴^ORCID

Affiliation:

1. Department of Genetics; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia

2. Department of Pediatrics; College of Medicine and King Khalid University Hospital, King Saud University; Riyadh Saudi Arabia

3. Department of Pediatric Subspecialties; Children's Hospital, King Fahad Medical City; Riyadh Saudi Arabia

4. Department of Anatomy and Cell Biology, College of Medicine; Alfaisal University; Riyadh Saudi Arabia

Funder

King Abdulaziz City for Science and Technology

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12999/fullpdf

Reference26 articles.

1. Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation;Dorota;Genetics in Medicine

2. Epileptic encephalopathy: use and misuse of a clinically and conceptually important concept;Howell;Epilepsia,2016

3. Classification of the epilepsies: new concepts for discussion and debate-special report of the ILAE classification task force of the commission for classification and terminology;Scheffer;Epilep Open,2016

4. Epileptic encephalopathies: optimizing seizure control and developmental outcome;Jehi;Epilepsia,2015

5. Novel genes of early-onset epileptic encephalopathies: from genotype to phenotypes;Mastrangelo;Pediatr Neurol,2015

Cited by 32 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. Clinical heterogeneity of epilepsy and mutation spectrum of voltage-gated sodium channel genes;2024-01-02

2. Transcriptional changes in the rat brain induced by repetitive transcranial magnetic stimulation;Frontiers in Human Neuroscience;2023-11-13

3. Sudden Infant Death Syndrome: Risk Factors and Newer Risk Reduction Strategies;Cureus;2023-06-17

4. Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy;Brain Communications;2023

5. Ion channels and febrile seizures: It’s not just SCN1A;Febrile Seizures;2023