title: Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone (Cosenza), Italy. g.provenzano@isn.cnr.it
authors.forename: Giovanni
authors.initials: G
authors.lastname: Provenzano
authors.forename: E
authors.initials: E
authors.lastname: Mannarino
authors.forename: F
authors.initials: F
authors.lastname: Annesi
authors.forename: E V
authors.initials: EV
authors.lastname: De Marco
authors.forename: F E
authors.initials: FE
authors.lastname: Rocca
authors.forename: V
authors.initials: V
authors.lastname: Greco
authors.forename: V
authors.initials: V
authors.lastname: Scornaienchi
authors.forename: P
authors.initials: P
authors.lastname: Tarantino
authors.forename: D
authors.initials: D
authors.lastname: Civitelli
authors.forename: A
authors.initials: A
authors.lastname: Quattrone
authors.forename: G
authors.initials: G
authors.lastname: Tortorella
authors.forename: G
authors.initials: G
authors.lastname: Annesi
mesh_terms: D001483:Base Sequence; D016022:Case-Control Studies; D003062:Codon; D004252:DNA Mutational Analysis; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D007438:Introns; D007558:Italy; D008969:Molecular Sequence Data; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009711:Nucleotides / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D003062:Codon; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; D009711:Nucleotides; C568242:SCN1A protein, human; D015222:Sodium Channels