Novel SCN1A Frameshift Mutation With Absence of Truncated Nav1.1 Protein in Severe Myoclonic Epilepsy of Infancy
- Author
- MCARDLE, Erin J1 ; KUNIC, Jennifer D2 ; GEORGE, Alfred L1 2
[1] Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, United States
[2] Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, United States - Source
American journal of medical genetics. Part A. 2008, Vol 146, Num 18, pp 2421-2423, 3 p ; ref : 1/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Epilepsie Grave Mutation cadre lecture Nourrisson Protéine Homme Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux
- Keyword (en)
- Epilepsy Severe Frameshift mutation Infant Protein Human Cerebral disorder Central nervous system disease Nervous system diseases
- Keyword (es)
- Epilepsia Grave Mutación frameshift Lactante Proteína Hombre Encéfalo patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A03 Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
- Discipline
- Medical genetics Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20593892
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ajmg.a.32448 
https://dx.doi.org/10.1002/ajmg.a.32448
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