Type 2 Generalized Epilepsy With Febrile Seizures Plus

mutation in SCN1A

Also Known As:

Generalized Epilepsy With Febrile Seizures Plus, Type 2; GEFS, Type 2; GEFSP2

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

1.	Juvenile Myoclonic Epilepsy
2.	Absence Epilepsy (Childhood Absence Epilepsy)
3.	Epilepsy (Aura)
4.	Febrile Seizures (Febrile Seizure)
5.	Generalized Epilepsy with Febrile Seizures Plus

Drugs and Important Biological Agents (IBA) related to Type 2 Generalized Epilepsy With Febrile Seizures Plus:

1.	Sodium Channels (Sodium Channel)IBA 01/01/2003 - "Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels." 04/01/2001 - "We recently described mutations of the neuronal sodium-channel alpha-subunit gene, SCN1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS+) type 2. To assess the contribution that SCN1A makes to other types of epilepsy, 226 patients with either juvenile myoclonic epilepsy, absence epilepsy, or febrile convulsions were screened by conformation-sensitive gel electrophoresis and manual sequencing of variants; the sample included 165 probands from multiplex families and 61 sporadic cases. "
2.	Voltage-Gated Sodium ChannelsIBA 10/01/2001 - "Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2."