"Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells."
Plummer N.W. , McBurney M.W. , Meisler M.H.
J. Biol. Chem.272:24008-24015(1997) [PubMed] [Europe PMC] [Abstract]

"Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A."
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Genomics54:287-296(1998) [PubMed] [Europe PMC] [Abstract]

"Regulation of podosome formation in macrophages by a splice variant of the sodium channel SCN8A."
Carrithers M.D. , Chatterjee G. , Carrithers L.M. , Offoha R. , Iheagwara U. , Rahner C. , Graham M. , Waxman S.G.
J. Biol. Chem.284:8114-8126(2009) [PubMed] [Europe PMC] [Abstract]

"cDNA sequence of human sodium channel, SCN8A."
Lin C. , Numakura C. , Kiyoshi H.
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"Cloning of cDNA for human voltage-gated sodium channel alpha subunit, SCN8A."
Jeong S.-Y. , Goto J. , Kanazawa I.
Submitted (2000-01) to the EMBL/GenBank/DDBJ databases

"The finished DNA sequence of human chromosome 12."
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Nature440:346-351(2006) [PubMed] [Europe PMC] [Abstract]

"Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons."
Wittmack E.K. , Rush A.M. , Craner M.J. , Goldfarb M. , Waxman S.G. , Dib-Hajj S.D.
J. Neurosci.24:6765-6775(2004) [PubMed] [Europe PMC] [Abstract]

"Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation."
Trudeau M.M. , Dalton J.C. , Day J.W. , Ranum L.P. , Meisler M.H.
J. Med. Genet.43:527-530(2006) [PubMed] [Europe PMC] [Abstract]

"de novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP."
Veeramah K.R. , O'Brien J.E. , Meisler M.H. , Cheng X. , Dib-Hajj S.D. , Waxman S.G. , Talwar D. , Girirajan S. , Eichler E.E. , Restifo L.L. , Erickson R.P. , Hammer M.F.
Am. J. Hum. Genet.90:502-510(2012) [PubMed] [Europe PMC] [Abstract]

"De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders."
Vaher U. , Noukas M. , Nikopensius T. , Kals M. , Annilo T. , Nelis M. , Ounap K. , Reimand T. , Talvik I. , Ilves P. , Piirsoo A. , Seppet E. , Metspalu A. , Talvik T.
J. Child Neurol.0:0-0(2013) [PubMed] [Europe PMC] [Abstract]

"Early onset epileptic encephalopathy caused by de novo SCN8A mutations."
Ohba C. , Kato M. , Takahashi S. , Lerman-Sagie T. , Lev D. , Terashima H. , Kubota M. , Kawawaki H. , Matsufuji M. , Kojima Y. , Tateno A. , Goldberg-Stern H. , Straussberg R. , Marom D. , Leshinsky-Silver E. , Nakashima M. , Nishiyama K. , Tsurusaki Y. , Miyake N. , Tanaka F. , Matsumoto N. , Saitsu H. more...
Epilepsia55:994-1000(2014) [PubMed] [Europe PMC] [Abstract]