From UniProt: Febrile seizures, familial, 8 (FEB8): Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. [MIM:611277] Epilepsy, childhood absence 2 (ECA2): A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood. [MIM:607681] Generalized epilepsy with febrile seizures plus 3 (GEFS+3): A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. [MIM:611277]

From NCBI Gene: This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

From UniProt: Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine . Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.

The following transcription factors affect gene expression:

Molecular Function:

• Gaba-A Receptor Activity
• Extracellular Ligand-Gated Ion Channel Activity
• Chloride Channel Activity
• Benzodiazepine Receptor Activity

Biological Processes:

• Transport
• Gamma-Aminobutyric Acid Signaling Pathway
• Post-Embryonic Development
• Adult Behavior
• Ion Transmembrane Transport
• Synaptic Transmission, Gabaergic
• Cellular Response To Histamine
• Chloride Transmembrane Transport

Drug Bank:

• Butabarbital
• Clorazepate
• Ergoloid Mesylate
• Ginkgo Biloba
• Adinazolam
• Alprazolam
• Amoxapine
• Bromazepam
• Chlordiazepoxide
• Cinolazepam
• Clobazam
• Clonazepam
• Desflurane
• Diazepam
• Enflurane
• Estazolam
• Ethchlorvynol
• Etomidate
• Fludiazepam
• Flumazenil
• Flurazepam
• Halazepam
• Halothane
• Isoflurane
• Lorazepam
• Meprobamate
• Methyprylon
• Midazolam
• Nitrazepam
• Olanzapine
• Pentobarbital
• Prazepam
• Primidone
• Propofol
• Quazepam
• Talbutal
• Temazepam
• Topiramate
• Triazolam
• Acamprosate
• Butalbital
• Clotiazepam
• Eszopiclone
• Glutethimide
• Methoxyflurane
• Oxazepam
• Sevoflurane