Human Metabolome Database: Showing Protein Sodium channel protein type 2 subunit alpha (HMDBP09080)

Identification Biological properties Gene properties Protein properties External links References XML Show 5 metabolites

Identification

HMDB Protein ID

HMDBP09080

Secondary Accession Numbers

14824

Name

Sodium channel protein type 2 subunit alpha

Synonyms

HBSC II
Sodium channel protein brain II subunit alpha
Sodium channel protein type II subunit alpha
Voltage-gated sodium channel subunit alpha Nav1.2

Gene Name

SCN2A

Protein Type

Unknown

Biological Properties

General Function

Involved in ion channel activity

Specific Function

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient

Pathways

Not Available

Reactions

Not Available

GO Classification

Component
macromolecular complex
voltage-gated sodium channel complex
sodium channel complex
cation channel complex
ion channel complex
cell part
protein complex
membrane
Function
cation channel activity
voltage-gated sodium channel activity
sodium channel activity
transporter activity
ion channel activity
ion transmembrane transporter activity
substrate-specific transmembrane transporter activity
transmembrane transporter activity
Process
transmembrane transport
establishment of localization
monovalent inorganic cation transport
sodium ion transport
cation transport
ion transport
transport

Cellular Location

Membrane
Multi-pass membrane protein

Gene Properties

Chromosome Location

Chromosome:2

Locus

2q24.3

SNPs

SCN2A

Gene Sequence

>6018 bp
ATGGCACAGTCAGTGCTGGTACCGCCAGGACCTGACAGCTTCCGCTTCTTTACCAGGGAA
TCCCTTGCTGCTATTGAACAACGCATTGCAGAAGAGAAAGCTAAGAGACCCAAACAGGAA
CGCAAGGATGAGGATGATGAAAATGGCCCAAAGCCAAACAGTGACTTGGAAGCAGGAAAA
TCTCTTCCATTTATTTATGGAGACATTCCTCCAGAGATGGTGTCAGTGCCCCTGGAGGAT
CTGGACCCCTACTATATCAATAAGAAAACGTTTATAGTATTGAATAAAGGGAAAGCAATC
TCTCGATTCAGTGCCACCCCTGCCCTTTACATTTTAACTCCCTTCAACCCTATTAGAAAA
TTAGCTATTAAGATTTTGGTACATTCTTTATTCAATATGCTCATTATGTGCACGATTCTT
ACCAACTGTGTATTTATGACCATGAGTAACCCTCCAGACTGGACAAAGAATGTGGAGTAT
ACCTTTACAGGAATTTATACTTTTGAATCACTTATTAAAATACTTGCAAGGGGCTTTTGT
TTAGAAGATTTCACATTTTTACGGGATCCATGGAATTGGTTGGATTTCACAGTCATTACT
TTTGCATATGTGACAGAGTTTGTGGACCTGGGCAATGTCTCAGCGTTGAGAACATTCAGA
GTTCTCCGAGCATTGAAAACAATTTCAGTCATTCCAGGCCTGAAGACCATTGTGGGGGCC
CTGATCCAGTCAGTGAAGAAGCTTTCTGATGTCATGATCTTGACTGTGTTCTGTCTAAGC
GTGTTTGCGCTAATAGGATTGCAGTTGTTCATGGGCAACCTACGAAATAAATGTTTGCAA
TGGCCTCCAGATAATTCTTCCTTTGAAATAAATATCACTTCCTTCTTTAACAATTCATTG
GATGGGAATGGTACTACTTTCAATAGGACAGTGAGCATATTTAACTGGGATGAATATATT
GAGGATAAAAGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAAC
AGCTCAGATGCAGGCCAGTGTCCTGAAGGATACATCTGTGTGAAGGCTGGTAGAAACCCC
AACTATGGCTACACGAGCTTTGACACCTTTAGTTGGGCCTTTTTGTCCTTATTTCGTCTC
ATGACTCAAGACTTCTGGGAAAACCTTTATCAACTGACACTACGTGCTGCTGGGAAAACG
TACATGATATTTTTTGTGCTGGTCATTTTCTTGGGCTCATTCTATCTAATAAATTTGATC
TTGGCTGTGGTGGCCATGGCCTATGAGGAACAGAATCAGGCCACATTGGAAGAGGCTGAA
CAGAAGGAAGCTGAATTTCAGCAGATGCTCGAACAGTTGAAAAAGCAACAAGAAGAAGCT
CAGGCGGCAGCTGCAGCCGCATCTGCTGAATCAAGAGACTTCAGTGGTGCTGGTGGGATA
GGAGTTTTTTCAGAGAGTTCTTCAGTAGCATCTAAGTTGAGCTCCAAAAGTGAAAAAGAG
CTGAAAAACAGAAGAAAGAAAAAGAAACAGAAAGAACAGTCTGGAGAAGAAGAGAAAAAT
GACAGAGTCCGAAAATCGGAATCTGAAGACAGCATAAGAAGAAAAGGTTTCCGTTTTTCC
TTGGAAGGAAGTAGGCTGACATATGAAAAGAGATTTTCTTCTCCACACCAGTCCTTACTG
AGCATCCGTGGCTCCCTTTTCTCTCCAAGACGCAACAGTAGGGCGAGCCTTTTCAGCTTC
AGAGGTCGAGCAAAGGACATTGGCTCTGAGAATGACTTTGCTGATGATGAGCACAGCACC
TTTGAGGACAATGACAGCCGAAGAGACTCTCTGTTCGTGCCGCACAGACATGGAGAACGG
CGCCACAGCAATGTCAGCCAGGCCAGCCGTGCCTCCAGGGTGCTCCCCATCCTGCCCATG
AATGGGAAGATGCATAGCGCTGTGGACTGCAATGGTGTGGTCTCCCTGGTCGGGGGCCCT
TCTACCCTCACATCTGCTGGGCAGCTCCTACCAGAGGGCACAACTACTGAAACAGAAATA
AGAAAGAGACGGTCCAGTTCTTATCATGTTTCCATGGATTTATTGGAAGATCCTACATCA
AGGCAAAGAGCAATGAGTATAGCCAGTATTTTGACCAACACCATGGAAGAACTTGAAGAA
TCCAGACAGAAATGCCCACCATGCTGGTATAAATTTGCTAATATGTGTTTGATTTGGGAC
TGTTGTAAACCATGGTTAAAGGTGAAACACCTTGTCAACCTGGTTGTAATGGACCCATTT
GTTGACCTGGCCATCACCATCTGCATTGTCTTAAATACACTCTTCATGGCTATGGAGCAC
TATCCCATGACGGAGCAGTTCAGCAGTGTACTGTCTGTTGGAAACCTGGTCTTCACAGGG
ATCTTCACAGCAGAAATGTTTCTCAAGATAATTGCCATGGATCCATATTATTACTTTCAA
GAAGGCTGGAATATTTTTGATGGTTTTATTGTGAGCCTTAGTTTAATGGAACTTGGTTTG
GCAAATGTGGAAGGATTGTCAGTTCTCCGATCATTCCGGCTGCTCCGAGTTTTCAAGTTG
GCAAAATCTTGGCCAACTCTAAATATGCTAATTAAGATCATTGGCAATTCTGTGGGGGCT
CTAGGAAACCTCACCTTGGTATTGGCCATCATCGTCTTCATTTTTGCTGTGGTCGGCATG
CAGCTCTTTGGTAAGAGCTACAAAGAATGTGTCTGCAAGATTTCCAATGATTGTGAACTC
CCACGCTGGCACATGCATGACTTTTTCCACTCCTTCCTGATCGTGTTCCGCGTGCTGTGT
GGAGAGTGGATAGAGACCATGTGGGACTGTATGGAGGTCGCTGGCCAAACCATGTGCCTT
ACTGTCTTCATGATGGTCATGGTGATTGGAAATCTAGTGGTTCTGAACCTCTTCTTGGCC
TTGCTTTTGAGTTCCTTCAGTTCTGACAATCTTGCTGCCACTGATGATGATAACGAAATG
AATAATCTCCAGATTGCTGTGGGAAGGATGCAGAAAGGAATCGATTTTGTTAAAAGAAAA
ATACGTGAATTTATTCAGAAAGCCTTTGTTAGGAAGCAGAAAGCTTTAGATGAAATTAAA
CCGCTTGAAGATCTAAATAATAAAAAAGACAGCTGTATTTCCAACCATACCACCATAGAA
ATAGGCAAAGACCTCAATTATCTCAAAGACGGAAATGGAACTACTAGTGGCATAGGCAGC
AGTGTAGAAAAATATGTCGTGGATGAAAGTGATTACATGTCATTTATAAACAACCCTAGC
CTCACTGTGACAGTACCAATTGCTGTTGGAGAATCTGACTTTGAAAATTTAAATACTGAA
GAATTCAGCAGCGAGTCAGATATGGAGGAAAGCAAAGAGAAGCTAAATGCAACTAGTTCA
TCTGAAGGCAGCACGGTTGATATTGGAGCTCCCGCCGAGGGAGAACAGCCTGAGGTTGAA
CCTGAGGAATCCCTTGAACCTGAAGCCTGTTTTACAGAAGACTGTGTACGGAAGTTCAAG
TGTTGTCAGATAAGCATAGAAGAAGGCAAAGGGAAACTCTGGTGGAATTTGAGGAAAACA
TGCTATAAGATAGTGGAGCACAATTGGTTCGAAACCTTCATTGTCTTCATGATTCTGCTG
AGCAGTGGGGCTCTGGCCTTTGAAGATATATACATTGAGCAGCGAAAAACCATTAAGACC
ATGTTAGAATATGCTGACAAGGTTTTCACTTACATATTCATTCTGGAAATGCTGCTAAAG
TGGGTTGCATATGGTTTTCAAGTGTATTTTACCAATGCCTGGTGCTGGCTAGACTTCCTG
ATTGTTGATGTCTCACTGGTTAGCTTAACTGCAAATGCCTTGGGTTACTCAGAACTTGGT
GCCATCAAATCCCTCAGAACACTAAGAGCTCTGAGGCCACTGAGAGCTTTGTCCCGGTTT
GAAGGAATGAGGGTTGTTGTAAATGCTCTTTTAGGAGCCATTCCATCTATCATGAATGTA
CTTCTGGTTTGTCTGATCTTTTGGCTAATATTCAGTATCATGGGAGTGAATCTCTTTGCT
GGCAAGTTTTACCATTGTATTAATTACACCACTGGAGAGATGTTTGATGTAAGCGTGGTC
AACAACTACAGTGAGTGCAAAGCTCTCATTGAGAGCAATCAAACTGCCAGGTGGAAAAAT
GTGAAAGTAAACTTTGATAACGTAGGACTTGGATATCTGTCTCTACTTCAAGTAGCCACG
TTTAAGGGATGGATGGATATTATGTATGCAGCTGTTGATTCACGAAATGTAGAATTACAA
CCCAAGTATGAAGACAACCTGTACATGTATCTTTATTTTGTCATCTTTATTATTTTTGGT
TCATTCTTTACCTTGAATCTTTTCATTGGTGTCATCATAGATAACTTCAACCAACAGAAA
AAGAAGTTTGGAGGTCAAGACATTTTTATGACAGAAGAACAGAAGAAATACTACAATGCA
ATGAAAAAACTGGGTTCAAAGAAACCACAAAAACCCATACCTCGACCTGCTAACAAATTC
CAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTC
ATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACA
AACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTG
AAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTG
GTGGTCATTCTCTCCATTGTAGGAATGTTTCTGGCTGAACTGATAGAAAAGTATTTTGTG
TCCCCTACCCTGTTCCGAGTGATCCGTCTTGCCAGGATTGGCCGAATCCTACGTCTGATC
AAAGGAGCAAAGGGGATCCGCACGCTGCTCTTTGCTTTGATGATGTCCCTTCCTGCGTTG
TTTAACATCGGCCTCCTTCTTTTCCTGGTCATGTTCATCTACGCCATCTTTGGGATGTCC
AATTTTGCCTATGTTAAGAGGGAAGTTGGGATCGATGACATGTTCAACTTTGAGACCTTT
GGCAACAGCATGATCTGCCTGTTCCAAATTACAACCTCTGCTGGCTGGGATGGATTGCTA
GCACCTATTCTTAATAGTGGACCTCCAGACTGTGACCCTGACAAAGATCACCCTGGAAGC
TCAGTTAAAGGAGACTGTGGGAACCCATCTGTTGGGATTTTCTTTTTTGTCAGTTACATC
ATCATATCCTTCCTGGTTGTGGTGAACATGTACATCGCGGTCATCCTGGAGAACTTCAGT
GTTGCTACTGAAGAAAGTGCAGAGCCTCTGAGTGAGGATGACTTTGAGATGTTCTATGAG
GTTTGGGAGAAGTTTGATCCCGATGCGACCCAGTTTATAGAGTTTGCCAAACTTTCTGAT
TTTGCAGATGCCCTGGATCCTCCTCTTCTCATAGCAAAACCCAACAAAGTCCAGCTCATT
GCCATGGATCTGCCCATGGTGAGTGGTGACCGGATCCACTGTCTTGACATCTTATTTGCT
TTTACAAAGCGTGTTTTGGGTGAGAGTGGAGAGATGGATGCCCTTCGAATACAGATGGAA
GAGCGATTCATGGCATCAAACCCCTCCAAAGTCTCTTATGAGCCCATTACGACCACGTTG
AAACGCAAACAAGAGGAGGTGTCTGCTATTATTATCCAGAGGGCTTACAGACGCTACCTC
TTGAAGCAAAAAGTTAAAAAGGTATCAAGTATATACAAGAAAGACAAAGGCAAAGAATGT
GATGGAACACCCATCAAAGAAGATACTCTCATTGATAAACTGAATGAGAATTCAACTCCA
GAGAAAACCGATATGACGCCTTCCACCACGTCTCCACCCTCGTATGATAGTGTGACCAAA
CCAGAAAAAGAAAAATTTGAAAAAGACAAATCAGAAAAGGAAGACAAAGGGAAAGATATC
AGGGAAAGTAAAAAGTAA

Protein Properties

Number of Residues

2005

Molecular Weight

227972.6

Theoretical pI

5.42

Pfam Domain Function

Ion_trans (PF00520 )
Na_trans_assoc (PF06512 )

Signals

None

Transmembrane Regions

125-148
157-176
190-208
215-234
251-274
402-427
754-778
790-813
822-841
848-867
884-904
958-983
1204-1227
1241-1266
1273-1294
1299-1320
1340-1367
1447-1473
1527-1550
1562-1585
1592-1615
1626-1647
1663-1685
1752-1776

Protein Sequence

>Sodium channel protein type 2 subunit alpha
MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQERKDEDDENGPKPNSDLEAGK
SLPFIYGDIPPEMVSVPLEDLDPYYINKKTFIVLNKGKAISRFSATPALYILTPFNPIRK
LAIKILVHSLFNMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKILARGFC
LEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGA
LIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQWPPDNSSFEINITSFFNNSL
DGNGTTFNRTVSIFNWDEYIEDKSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNP
NYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLI
LAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAAAAAASAESRDFSGAGGI
GVFSESSSVASKLSSKSEKELKNRRKKKKQKEQSGEEEKNDRVRKSESEDSIRRKGFRFS
LEGSRLTYEKRFSSPHQSLLSIRGSLFSPRRNSRASLFSFRGRAKDIGSENDFADDEHST
FEDNDSRRDSLFVPHRHGERRHSNVSQASRASRVLPILPMNGKMHSAVDCNGVVSLVGGP
STLTSAGQLLPEGTTTETEIRKRRSSSYHVSMDLLEDPTSRQRAMSIASILTNTMEELEE
SRQKCPPCWYKFANMCLIWDCCKPWLKVKHLVNLVVMDPFVDLAITICIVLNTLFMAMEH
YPMTEQFSSVLSVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVSLSLMELGL
ANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGM
QLFGKSYKECVCKISNDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCL
TVFMMVMVIGNLVVLNLFLALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDFVKRK
IREFIQKAFVRKQKALDEIKPLEDLNNKKDSCISNHTTIEIGKDLNYLKDGNGTTSGIGS
SVEKYVVDESDYMSFINNPSLTVTVPIAVGESDFENLNTEEFSSESDMEESKEKLNATSS
SEGSTVDIGAPAEGEQPEVEPEESLEPEACFTEDCVRKFKCCQISIEEGKGKLWWNLRKT
CYKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLK
WVAYGFQVYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRF
EGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINYTTGEMFDVSVV
NNYSECKALIESNQTARWKNVKVNFDNVGLGYLSLLQVATFKGWMDIMYAAVDSRNVELQ
PKYEDNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNA
MKKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILICLNMVTMMVETDDQSQEMT
NILYWINLVFIVLFTGECVLKLISLRYYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFV
SPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMS
NFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSGPPDCDPDKDHPGS
SVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYE
VWEKFDPDATQFIEFAKLSDFADALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFA
FTKRVLGESGEMDALRIQMEERFMASNPSKVSYEPITTTLKRKQEEVSAIIIQRAYRRYL
LKQKVKKVSSIYKKDKGKECDGTPIKEDTLIDKLNENSTPEKTDMTPSTTSPPSYDSVTK
PEKEKFEKDKSEKEDKGKDIRESKK

External Links

GenBank ID Protein

62822423

UniProtKB/Swiss-Prot ID

Q99250

UniProtKB/Swiss-Prot Entry Name

SCN2A_HUMAN

PDB IDs

1BYY

GenBank Gene ID

GeneCard ID

GenAtlas ID

HGNC ID

References

General References

Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed:15815621 ]
Lu CM, Han J, Rado TA, Brown GB: Differential expression of two sodium channel subtypes in human brain. FEBS Lett. 1992 May 25;303(1):53-8. [PubMed:1317301 ]
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH: Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry. 2003 Feb;8(2):186-94. [PubMed:12610651 ]
Ahmed CM, Ware DH, Lee SC, Patten CD, Ferrer-Montiel AV, Schinder AF, McPherson JD, Wagner-McPherson CB, Wasmuth JJ, Evans GA, et al.: Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain. Proc Natl Acad Sci U S A. 1992 Sep 1;89(17):8220-4. [PubMed:1325650 ]
Kasai N, Fukushima K, Ueki Y, Prasad S, Nosakowski J, Sugata K, Sugata A, Nishizaki K, Meyer NC, Smith RJ: Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus. Gene. 2001 Feb 7;264(1):113-22. [PubMed:11245985 ]
Han JA, Lu CM, Brown GB, Rado TA: Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23. Proc Natl Acad Sci U S A. 1991 Jan 15;88(2):335-9. [PubMed:1846440 ]
Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Mazaki-Miyazaki E, Nagafuji H, Noda M, Imoto K, Wada K, Mitsudome A, Kaneko S, Montal M, Nagata K, Hirose S, Yamakawa K: A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci U S A. 2001 May 22;98(11):6384-9. [PubMed:11371648 ]
Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni MH, Guiot MC, Mulley JC, Berkovic SF, Scheffer IE: Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet. 2002 Sep 14;360(9336):851-2. [PubMed:12243921 ]
Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE: Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol. 2004 Apr;55(4):550-7. [PubMed:15048894 ]