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Genotype―phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits

Author
MICELI, Francesco1 ; VIRGINIA SOLDOVIERI, Maria2 ; AMBROSINO, Paolo2 ; BARRESE, Vincenzo1 ; MIGLIORE, Michele3 ; CILIO, Maria Roberta4 5 ; TAGLIALATELA, Maurizio1 2
[1] Department of Neuroscience, University of Naples Federico II, 80131 Naples, Italy
[2] Department of Medicine and Health Science, University of Molise, 86100 Campobasso, Italy
[3] Institute of Biophysics, National Research Council, 90146 Palermo, Italy
[4] Division of Neurology, Bambino Gesù Children's Hospital and Research Institute, 00165 Rome, Italy
[5] Department of Neurology, University of California, San Francisco, CA 94143, United States
Source

Proceedings of the National Academy of Sciences of the United States of America. 2013, Vol 110, Num 11, pp 4386-4391, 6 p ; ref : 48 ref

CODEN
PNASA6
ISSN
0027-8424
Scientific domain
Multidisciplinary
Publisher
National Academy of Sciences, Washington, DC
Publication country
United States
Document type
Article
Language
English
Author keyword
anticonvulsants brain development channelopathies potassium channel gating π-stacking interaction
Keyword (fr)
Anticonvulsivant Canal ionique Développement Encéphale Epilepsie Génotype Mutation Potassium Sousunité Pathologie du système nerveux Système nerveux central
Keyword (en)
Anticonvulsant Ionic channel Development Encephalon Epilepsy Genotype Mutation Potassium Subunit Nervous system diseases Central nervous system
Keyword (es)
Anticonvulsivante Canal iónico Desarrollo Encéfalo Epilepsia Genotipo Mutación Potasio Subunitad Sistema nervioso patología Sistema nervioso central
Classification
Pascal
002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A25 Vertebrates: nervous system and sense organs

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
Neurology Vertebrates : nervous system and sense organs
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
27200142

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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