Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with <scp> <i>SCN2A</i> </scp> and <scp> <i>SCN8A</i> </scp> variants and literature review-Reference-Cited by-同舟云学术

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review

Published:2022-03-29 Issue:5 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Mangano Giuseppe Donato¹,Fontana Antonina¹,Antona Vincenzo¹,Salpietro Vincenzo²³,Mangano Giuseppa Renata⁴,Giuffrè Mario¹,Nardello Rosaria¹^ORCID

Affiliation:

1. Department of Health Promotion, Mother and Child Care Internal Medicine and Medical Specialities “G. D'Alessandro,” University of Palermo Palermo Italy

2. Department of Molecular Neuroscience UCL Institute of Neurology London UK

3. Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Pediatric Neurology and Muscular Diseases Unit IRCCS Giannina Gaslini Institute Genoa Italy

4. Department of Psychology, Educational Sciences and Human Movement University of Palermo Palermo Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1911

Reference31 articles.

1. Phylogeny of ion channels: clues to structure and function

2. Opposing Effects on Na V 1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures

3. Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy

4. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

5. Voltage-gated sodium channels at 60: structure, function and pathophysiology

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