Assessment of burden and segregation profiles of <scp>CNVs</scp> in patients with epilepsy-Reference-Cited by-同舟云学术

Assessment of burden and segregation profiles of CNVs in patients with epilepsy

Published:2022-06-08 Issue:7 Volume:9 Page:1050-1058
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Moreau Claudia¹^ORCID,Tremblay Frédérique¹,Wolking Stefan²^ORCID,Girard Alexandre¹,Laprise Catherine¹^ORCID,Hamdan Fadi F.³⁴^ORCID,Michaud Jacques L.³⁵,Minassian Berge A.⁶⁷^ORCID,Cossette Patrick⁸⁹,Girard Simon L.¹¹⁰^ORCID

Affiliation:

1. Department of Fundamental Sciences University of Quebec in Chicoutimi Chicoutimi Canada

2. Department of Neurology and Epileptology University Hospital RWTH Aachen Aachen Germany

3. CHU Sainte‐Justine Research Center Montreal Canada

4. Department of Pediatrics University of Montreal Montreal Canada

5. Department of Neurosciences and Department of Pediatrics University of Montreal Montreal Canada

6. Department of Pediatrics Hospital for Sick Children and University of Toronto Toronto Canada

7. Department of Pediatrics University of Texas Southwestern Dallas Texas USA

8. CHUM Research Center Montreal Canada

9. Department of Neurosciences University of Montreal Montreal Canada

10. CERVO Research Center Laval University Quebec Canada

Funder

Chesapeake Research Consortium

Canadian Institutes of Health Research

Compute Canada

Genome Canada

Génome Québec

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51598

Reference51 articles.

1. The economic impact of epilepsy: a systematic review;Allers K;BMC Neurol,2015

2. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

3. A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33

4. A nonsense mutation in the α4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI)

5. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

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1. Unraveling the role of non-coding rare variants in epilepsy;PLOS ONE;2023-09-27

2. Genetic mechanisms in generalized epilepsies;Acta Epileptologica;2023-03-10