Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Kambouris Marios; Julien Thevenon; Allison Cox; Alice Masurel-Paulet; Judith Saint-Onge; Yannis Duffourd; Corine Chantegret; Christel Thauvin-Robinet; Hatem El‐Shanti; Laurence Faivre; Jean-Baptiste Riviere

doi:10.1002/acn3.372

Back

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Journal article

Open access

Peer reviewed

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Kambouris Marios, Julien Thevenon, Allison Cox, Alice Masurel-Paulet, Judith Saint-Onge, Yannis Duffourd, Corine Chantegret, Christel Thauvin-Robinet, Hatem El‐Shanti, Laurence Faivre, …

Annals of clinical and translational neurology, Vol.4(1), pp.26-35

12/20/2017

DOI: 10.1002/acn3.372

PMID: 28078312

Files and links (1)

url

https://doi.org/10.1002/acn3.372View

Published (Version of record) Open Access

Abstract

Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation.

Life Sciences

Genetics

Human genetics

Details

Title: Subtitle: Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy
Creators: Kambouris Marios - Yale University School of Medicine
Julien Thevenon - Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
Allison Cox - University of Iowa [Iowa City]
Alice Masurel-Paulet - Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
Judith Saint-Onge - Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
Yannis Duffourd - Génétique des Anomalies du Développement
Corine Chantegret - Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
Christel Thauvin-Robinet - Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand
Hatem El‐Shanti
Laurence Faivre - Génétique des Anomalies du Développement
Jean-Baptiste Riviere - Génétique des Anomalies du Développement
Resource Type: Journal article
Publication Details: Annals of clinical and translational neurology, Vol.4(1), pp.26-35
DOI: 10.1002/acn3.372
PMID: 28078312
NLM abbreviation: Ann Clin Transl Neurol
ISSN: 2328-9503
eISSN: 2328-9503
Publisher: Wiley
Grant note: DOI: 10.13039/100008982, name: Qatar National Research Fund, award: 09‐367‐3‐087, 6‐359‐3‐095; DOI: 10.13039/100000002, name: National Institutes of Health, award: 1R01 NS064159‐01A1, 5R21MH100086‐02
Language: English
Date published: 12/20/2017
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984014529702771

Metrics

25 Record Views

22 Times Cited - Web of Science