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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 

Your search matched a total of 30 documents. Results 1 - 10.

Homo sapiens
Gene: ... medium. Associations of SCN1A with chemical compounds All affected individuals who were tested and one...Disease relevance of SCN1A Additional evidences were brought by the identification of mutations in voltage- dependent sodium channels( SCN1A, SCN1B) in a form of generalized epilepsy with febrile seizures...
Mus musculus
Gene: ... High impact information on Scn1a The sodium current density was, however, substantially reduced in inhibitory interneurons of Scn1a (+/-) and Scn1a (-/-) mice but not in their excitatory pyramidal neurons. Homozygous null Scn1a (-/-) mice developed ataxia and died on postnatal day( P) 15 but could be sustained...
MeSH term: ... and evaluation of tagging SNPs in the neuronal- sodium- channel gene SCN1A: implications for linkage...
MeSH term: ... a third GABA( A )- receptor gamma2- subunit mutation was found. Mutations in SCN1A, the gene encoding..., Febrile We recently described mutations of the neuronal sodium- channel alpha- subunit gene, SCN1A... hypoxia- induced seizures. Two novel SCN1A missense mutations in generalized epilepsy with febrile...
MeSH term: ... are not predictive of SCN1A mutations in sporadic myoclonic epilepsies of infancy and early childhood. Patients... with PME. Chemical compound and disease context of Epilepsies, Myoclonic All patients receiving VPA in mono...

 

 
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