Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy-Reference-Cited by-同舟云学术

Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy

Published:2018-12 Issue:12 Volume:176 Page:2733-2739
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Bozarth Xiuhua¹²^ORCID,Dines Jennifer N.³⁴,Cong Qian⁵,Mirzaa Ghayda M.²³,Foss Kimberly⁶,Lawrence Merritt J.³,Thies Jenny⁶,Mefford Heather C.³,Novotny Edward¹²

Affiliation:

1. Division of Pediatric Neurology, Department of Neurology; University of Washington; Seattle Washington

2. Center for Integrative Brain Research; Seattle Children's Research Institute; Seattle Washington

3. Division of Genetic Medicine, Department of Pediatrics; University of Washington; Seattle Washington

4. Division of Medical Genetics, Department of Internal Medicine; University of Washington; Seattle Washington

5. Department of Biochemistry and Institution for Protein Design; University of Washington; Seattle Washington

6. Division of Genetic Medicine; Seattle Children's Hospital; Seattle Washington

Funder

Gordan's Guardian Angels

National Institute of Neurological Disorders and Stroke

National Institute of General Medical Sciences of National Institutes of Health Postdoctoral Training Program in Medical Genetics

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40657/fullpdf

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2. Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation;Children;2024-04-30

3. The complex etiology of Epilepsy in the Middle East: Genetic analysis and HLA associations;2024-03-18

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