Haug K., Hallmann K., Rebstock J., Dullinger J., Muth S., Haverkamp F., Pfeiffer H., Rau B., Elger C.E., Propping P. et al.

Epilepsy Res. 47:243-246(2001) GeneRIF 6326 · Mapped (4)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 6326

Nakayama J., Yamamoto N., Hamano K., Iwasaki N., Ohta M., Nakahara S., Horigome Y., Nakahara C., Noguchi E., Shiono J. et al.

Neurosci. Lett. 329:249-251(2002) GeneRIF 6326 · Mapped (4)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 6326

Kamiya K., Kaneda M., Sugawara T., Mazaki E., Okamura N., Montal M., Makita N., Tanaka M., Fukushima K., Fujiwara T. et al.

J. Neurosci. 24:2690-2698(2004) GeneRIF 6326 · Mapped (4)
We found a nonsense mutation of SCN2A in a patient with intractable epilepsy and severe mental decline. The phenotype is like severe myoclonic epilepsy in infancy but distinct because of partial epilepsy delayed onset and no temperature sensitivity GeneRIF 6326

Pereira S., Vieira J.P., Barroca F., Roll P., Carvalhas R., Cau P., Sequeira S., Genton P., Szepetowski P.

Neurology 63:191-192(2004) GeneRIF 6326 · Mapped (11)
a role for the hemizygous deletion of not one but two sodium channel genes (SCN1A and SCN2A) in another complicated and more severe epileptic phenotype. GeneRIF 6326

Kim J., Ghosh S., Liu H., Tateyama M., Kass R.S., Pitt G.S.

J. Biol. Chem. 279:45004-45012(2004) GeneRIF 6326 · Mapped (18)
Calmodulin mediates Ca2+ sensitivity of Nav1.2 and Nav1.5 sodium channels GeneRIF 6326

Platoshyn O., Remillard C.V., Fantozzi I., Sison T., Yuan J.X.

Pflugers Arch. 451:380-387(2005) GeneRIF 6326 · Mapped (8)
Although data suggest that SCN2A1 activity does not directly influence membrane potential intracellular Ca(2+) release or proliferation in normal human pulmonary artery smooth muscle cells its physiological functions remain unresolved. GeneRIF 6326

Kearney J.A., Yang Y., Beyer B., Bergren S.K., Claes L., Dejonghe P., Frankel W.N.

Hum. Mol. Genet. 15:1043-1048(2006) GeneRIF 6326 · Mapped (30)
Genetic interaction between the combined mild alleles of monogenic epilepsy genes KCNQ2 and SCN2A1 results in severe epilepsy in transgenic mice. GeneRIF 6326

Johnson D., Bennett E.S.

J. Biol. Chem. 281:25875-25881(2006) GeneRIF 6326 · Mapped (4)
Data show that the varied effects of beta1 and beta2 on Nav1.5 and Nav1.2 gating are apparently synergistic and highlight the complex manner through subunit- and sugar-dependent mechanisms by which Nav activity is modulated. GeneRIF 6326

Maurer-Morelli C.V., Secolin R., Marchesini R.B., Santos N.F., Kobayashi E., Cendes F., Lopes-Cendes I.

Epilepsy Res. 71:233-236(2006) GeneRIF 6326 · Mapped (4)
The SCN2A gene was tested for a possible role in hippocampal abnormalities in familial mesial temporal lobe epilepsy. We conclusively ruled out the SCN2A gene as a candidate in FMTLE. GeneRIF 6326

Herlenius E., Heron S.E., Grinton B.E., Keay D., Scheffer I.E., Mulley J.C., Berkovic S.F.

Epilepsia 48:1138-1142(2007) GeneRIF 6326 · Mapped (4)
two large families with benign familial neonatal-infantile seizure (BFNIS) and novel SCN2A mutations; the families had 12 & 9 affected individuals respectively with phenotypes consistent with BFNIS; two mutations were discovered in SCN2A (E430Q; I1596S) GeneRIF 6326

Xu R., Thomas E.A., Jenkins M., Gazina E.V., Chiu C., Heron S.E., Mulley J.C., Scheffer I.E., Berkovic S.F., Petrou S.

Mol. Cell. Neurosci. 35:292-301(2007) GeneRIF 6326 · Mapped (4)
analysis of neonatal & adult splice forms of NaV1.2 with a benign familial neonatal-infantile seizures mutation; developmentally regulated NaV1.2 splicing may be one mechanism that counters the normally high excitability of neonatal neurons GeneRIF 6326

Martin M.S., Tang B., Ta N., Escayg A.

Genomics 90:225-235(2007) GeneRIF 6326 · Mapped (16)
Characterization of 5' untranslated regions SCN2A and identification of cis-conserved noncoding sequences GeneRIF 6326

Xiumin Wang, Meichun Xu, Lizhong Du

J. Child Neurol. 22:714-719(2007) GeneRIF 6326 · Mapped (7)
Observational study of gene-disease association. (HuGE Navigator); In south china the R188W mutation of the SCN2A gene not releate to children with febrile seizures. GeneRIF 6326

Volzone A., Rizzo R., Gagliano A., Palmarino M., Lucarelli P., Arpino C., Curatolo P.

J. Child Neurol. 22:907-910(2007) GeneRIF 6326 · Mapped (4)
Allele frequencies of both the D2S111 and the D2S124 polymorphisms of the SCN2A gene were not significantly different between cases with a specific idiopathic generalized epilepsy subtype (with generalized tonic-clonic seizures) and healthy controls; Observational study of gene-disease association. (HuGE Navigator) GeneRIF 6326

Black J.A., Newcombe J., Trapp B.D., Waxman S.G.

J. Neuropathol. Exp. Neurol. 66:828-837(2007) GeneRIF 6326 · Mapped (4)
Nav1.2 immunostaining was not observed along demyelinated axons in chronic lesions but was expressed by scar and reactive astrocytes within the plaque. GeneRIF 6326

Misra S.N., Kahlig K.M., George A.L. Jr.

Epilepsia 49:1535-1545(2008) GeneRIF 6326 · Mapped (4)
SCN2A gene mutations are associated with inherited benign neonatal-infantile epilepsy. GeneRIF 6326

Kwan P., Poon W.S., Ng H.K., Kang D.E., Wong V., Ng P.W., Lui C.H., Sin N.C., Wong K.S., Baum L.

Pharmacogenet. Genomics 18:989-998(2008) GeneRIF 6326 · Mapped (16)
Observational study of gene-disease association gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator); The association of antiepileptic drugs responsiveness with genetic polymorphisms was investigated and any association with mRNA expression of the neuronal sodium channels was correlated. GeneRIF 6326

Miloushev V.Z., Levine J.A., Arbing M.A., Hunt J.F., Pitt G.S., Palmer A.G.

J. Biol. Chem. 284:6446-6454(2009) GeneRIF 6326 PDB 2KAV · Mapped (4)
Clinically significant mutations identified in the C-terminal region of NaV1 sodium channels cluster in the helix I-IV interface and the helix II-III interhelical segment or in helices III and IV of the NaV1.2 (1777-1882) structure. GeneRIF 6326

Jang S.Y., Kim M.K., Lee K.R., Park M.S., Kim B.C., Cho K.H., Lee M.C., Kim Y.S.

J. Korean Med. Sci. 24:62-68(2009) GeneRIF 6326 · Mapped (15)
Observational study of gene-disease association gene-gene interaction gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) GeneRIF 6326

Laezza F., Lampert A., Kozel M.A., Gerber B.R., Rush A.M., Nerbonne J.M., Waxman S.G., Dib-Hajj S.D., Ornitz D.M.

Mol. Cell. Neurosci. 42:90-101(2009) GeneRIF 6326 · Mapped (9)
Data demonstrate that the two N-terminal alternatively spliced FGF14 variants FGF14-1a and FGF14-1b differentially regulate currents produced by Nav1.2 and Nav1.6 channels. GeneRIF 6326

Lakhan R., Kumari R., Misra U.K., Kalita J., Pradhan S., Mittal B.

Br. J. Clin. Pharmacol. 68:214-220(2009) GeneRIF 6326 · UniProtKB (1) · Mapped (10)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 6326

Argyriou A.A., Antonacopoulou A.G., Scopa C.D., Kottorou A., Kominea A., Peroukides S., Kalofonos H.P.

Oncology 77:254-256(2009) GeneRIF 6326 · Mapped (4)
Observational study of gene-disease association gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) GeneRIF 6326

Thomas E.A., Hawkins R.J., Richards K.L., Xu R., Gazina E.V., Petrou S.

Ann. Neurol. 66:219-226(2009) GeneRIF 6326 · Mapped (11)
The direct effect of heat on Nav1.2 channels localized to the site of action potential initiation potentially causes a profound increase in neuronal excitability. This is likely to contribute to febrile seizure genesis. GeneRIF 6326

Shi X., Yasumoto S., Nakagawa E., Fukasawa T., Uchiya S., Hirose S.

Brain Dev. 31:758-762(2009) GeneRIF 6326 · Mapped (4)
This finding suggests that both nonsense mutations and missense SCN2A mutations cause Dravet syndrome. GeneRIF 6326

Chen C.P., Lin S.P., Chern S.R., Chen Y.J., Tsai F.J., Wu P.C., Wang W.

Eur J Med Genet 53:217-220(2010) GeneRIF 6326 · Mapped (9)
Deletions in SCN2A gene is associated with autistic features and developmental delay. GeneRIF 6326