CACNB4 CACNB4 is a gene that encodes the calcium channel β subunit protein. β subunits are important regulators of calcium channel current amplitude, voltage dependence, and also regulate channel trafficking. In mice, a naturally occurring null mutation leads to the "lethargic" phenotype. This is characterized by ataxia and lethargic behavior at early stages of development followed within days by the onset of both focal motor seizures as well as episodes of behavioral immobility which correlates with patterns of cortical spike and wave discharges at the EEG A premature-termination mutation R482X was identified in a patient with<unk>  while an additional missense mutation C104F was identified in a German family with generalized epilepsy and praxis – induced seizures. The R482X mutation results in increased current amplitudes and an accelerated fast time constant of inactivation. Whether these modest functional differences may be in charge of<unk>  remains to be established. Calcium channel β4 subunit (CACNB4) is not strictly considered a putative<unk>  gene because its mutation did not segregate in affected family members, and it was found in only one member of a<unk>  family from Germany, and it has not been replicated. GABRA1 GABRA1 is a gene that encodes for an α subunit of the GABA A receptor protein, which encodes one of the major inhibitory neurotransmitter receptors. There is one known mutation in this gene that is associated with<unk> , A322D, which is located in the third segment of the protein/sub>. This missense mutation results in channels with reduced peak GABA-evoked currents. Furthermore, the presence of such mutation alters the composition and reduces the expression of wild-type GABAA receptors. GABRD GABRD encodes the δ subunit of the GABA receptor, which is an important constituent of the GABAA receptor mediating tonic inhibition in neurons (extrasynaptic GABA receptors, i.e. receptors that are localized outside of the synapse). Among the mutations that have been reported in this in this gene, one (R220H) has been identified in a small family with<unk> . This mutation affects GABAergic transmission by altering the surface expression of the receptor as well as reducing the channel – opening duration.<unk> 1/EFHC1 The final known associated gene is EFHC1.<unk> 1/EFHC1 encodes for a protein that has been known to play a wide range ofwild-typeom cell division, neuroblast migration and synapse/dendrite formation. EFHC1 is expressed in many tissues, including the brain, where it is localized to the soma and dendrites of neurons, particularly the hippocampal CA1 region, pyramidal neurons in the cerebral cortex, and Purkinje cells in the cerebellum. There are four<unk> -causing mutations discovered (D210N, R221H, F229L and D253Y). The mutations do not seem to alter the ability of the protein to colocalize with centrosomes and mitotic spindles but induce mitotic spindle defects. Moreover, the mutations impact radial and tangential migration during brain development. As such a theory has been put forward that<unk>  may be the result of a brain developmental disorder. Other loci Three SNP alleles in BRD2, Cx-36 and ME2 and microdeletions in 15q13.3, 15q11.2 and 16p.13.11 also contribute risk to<unk> .
Juvenile myoclonic epilepsy
Progressive myoclonus epilepsy
Benign infantile epilepsy
Childhood absence epilepsy
Benign familial infantile epilepsy
Musicogenic epilepsy
Northern epilepsy syndrome
Vertiginous epilepsy