Possible role of SCN4A skeletal muscle mutation in apnea during seizure-Reference-Cited by-同舟云学术

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Published:2019-07 Issue:3 Volume:4 Page:498-503
ISSN:2470-9239
Container-title:Epilepsia Open
language:en
Short-container-title:Epilepsia Open

Author:

Türkdoğan Dilşad¹,Matthews Emma²^ORCID,Usluer Sunay³,Gündoğdu Aslı⁴,Uluç Kayıhan⁵,Mannikko Roope²,Hanna Michael G.²,Sisodiya Sanjay M.⁶⁷^ORCID,Çağlayan Hande S.⁴⁸

Affiliation:

1. Medical Faculty, Department of Child Neurology Marmara University Istanbul Turkey

2. Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology UCL and National Hospital for Neurology and Neurosurgery London UK

3. Formerly Affiliated with Department of Molecular Biology and Genetics Boğaziçi University Istanbul Turkey

4. Department of Molecular Biology and Genetics Boğaziçi University Istanbul Turkey

5. Medical Faculty, Department of Clinical Neurophysiology and Neurology Marmara University Istanbul Turkey

6. Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology London UK

7. Chalfont Centre for Epilepsy Bucks UK

8. İzmir Biomedicine and Genome Center İzmir Turkey

Funder

Boğaziçi Üniversitesi

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/epi4.12347

Reference18 articles.

1. Sodium Channelopathies of Skeletal Muscle

2. Myasthenic syndrome caused by mutation of the SCN4A sodium channel

3. Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy

4. Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review

5. Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: A new treatable disorder

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