Generalized epilepsy with febrile seizures plus, type 2; GEFSP2

Disease ID:389
Name:Generalized epilepsy with febrile seizures plus, type 2; GEFSP2
Associated with:1 target
Synonyms
Generalized epilepsy with febrile seizures-plus
Database Links
Disease Ontology: DOID:0060170
OMIM: 604403
Orphanet: ORPHA36387

Targets

Nav1.1
Drugs:  Treated with anti-epileptic drugs.
References:  1,3,5
Mutations:  Nav1.1 is associated with 10 mutation. Click here for details

Ligands

No ligand related data available for Generalized epilepsy with febrile seizures plus, type 2; GEFSP2

References

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1. Catterall WA. (2014) Sodium channels, inherited epilepsy, and antiepileptic drugs. Annu. Rev. Pharmacol. Toxicol., 54: 317-38. [PMID:24392695]

2. Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH. (2001) A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. Am. J. Hum. Genet., 68 (4): 866-73. [PMID:11254445]

3. Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A. (2000) Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet., 24 (4): 343-5. [PMID:10742094]

4. Orrico A, Galli L, Grosso S, Buoni S, Pianigiani R, Balestri P, Sorrentino V. (2009) Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. Clin. Genet., 75 (6): 579-81. [PMID:19522081]

5. Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL, Mulley JC, Berkovic SF. (2001) Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet., 68 (4): 859-65. [PMID:11254444]