Seizures, benign familial infantile, 3; BFIS3

Disease ID:140
Name:Seizures, benign familial infantile, 3; BFIS3
Associated with:1 target
Synonyms
Benign familial infantile epilepsy | Benign familial neonatal-infantile seizures
Database Links
OMIM: 607745
Orphanet: ORPHA306, ORPHA140927

Targets

Nav1.2
Role:  Mutations in Nav1.2 affect the initiation and conduction of excess action potentials.
Drugs:  Anti-epileptic drugs including phenytoin, lamotrigine and clonazepam.
References:  1,3,6
Mutations:  Nav1.2 is associated with 10 mutation. Click here for details

Ligands

No ligand related data available for Seizures, benign familial infantile, 3; BFIS3

References

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1. 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. (2004) Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann. Neurol., 55 (4): 550-7. [PMID:15048894]

2. Herlenius E, Heron SE, Grinton BE, Keay D, Scheffer IE, Mulley JC, Berkovic SF. (2007) SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia, 48 (6): 1138-42. [PMID:17386050]

3. 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. (2002) Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet, 360 (9336): 851-2. [PMID:12243921]

4. Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D et al.. (2010) Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain, 133 (Pt 5): 1403-14. [PMID:20371507]

5. Striano P, Bordo L, Lispi ML, Specchio N, Minetti C, Vigevano F, Zara F. (2006) A novel SCN2A mutation in family with benign familial infantile seizures. Epilepsia, 47 (1): 218-20. [PMID:16417554]

6. Xu R, Thomas EA, Jenkins M, Gazina EV, Chiu C, Heron SE, Mulley JC, Scheffer IE, Berkovic SF, Petrou S. (2007) A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel. Mol. Cell. Neurosci., 35 (2): 292-301. [PMID:17467289]