Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy

Hum Genet. 2009 Aug;126(2):337.

Authors

Giovanni Provenzano¹, E Mannarino, F Annesi, E V De Marco, F E Rocca, V Greco, V Scornaienchi, P Tarantino, D Civitelli, A Quattrone, G Tortorella, G Annesi

Affiliation

¹ Institute of Neurological Sciences, National Research Council, Mangone (Cosenza), Italy. g.provenzano@isn.cnr.it

PMID: 19694011

No abstract available

MeSH terms

Base Sequence
Case-Control Studies
Codon
DNA Mutational Analysis
Epilepsies, Myoclonic / genetics*
Gene Deletion
Humans
Infant, Newborn
Introns
Italy
Molecular Sequence Data
Mutation*
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins / genetics*
Nucleotides / genetics*
Sodium Channels / genetics*

Substances

Codon
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins
Nucleotides
SCN1A protein, human
Sodium Channels

Associated data

GENBANK/HD080030