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. Author manuscript; available in PMC: 2009 Oct 21.
Published in final edited form as: Annu Rev Genet. 2001;35:567–588. doi: 10.1146/annurev.genet.35.102401.091142

TABLE 2.

Epilepsy genes identified in spontaneous mouse mutants. For details see the Mouse Genome Database (MGD) website at www.informatics.jax.org. The chromosomal locations of the human orthologs are indicated

Category Gene Mouse chr Protein Mutant Mutation Modea Seizure type Human
chromosome
Channels receptors Cacna1a 8 Voltage-gated calcium channel α subunit tottering leaner rolling-Nagoya Missense truncation AR Spike wave, focal motor 19p13
Cacnb4 2 Voltage-gated calcium channel β4 subunit lethargic Null AR Spike wave 2q22
Cacna2d2 9 Voltage-gated calcium channel α2δ2 subunit ducky torpid Null AR Spike wave 3p21
Cacng2 15 Voltage-dependent calcium channel stargazer Null AR Spike wave 22
γ2 subunit OR receptor transporter waggler
Kcnj6 16 G-protein gated inwardly-rectifying K+ channel (GIRK2) weaver Missense AR Tonic-clonic 21q22
Itpr1 6 Inositol 1,4,5-triphosphate receptor opisthotonos In-frame deletion AR Tonic-clonic 3p26
pH Homeostasis Slc9a1 4 Na+/H+ exchanger slow wave epilepsy Null AR Spike wave tonic-clonic 1p36
Intracellular transport Myo5a 9 Myosin Va dilute-neurological Null AR 15q21
Ap3d 10 Adaptor-related protein complex AP-3, delta mocha Null AR 19p13
Myelination Pmp22 11 Peripheral myelin protein trembler Several AD Tonic-clonic 17p12
Plp X Myelin proteolipid protein jimpy Several XR Xq21
Membrane protein Mass1 13 Monogenic audiogenic seizure susceptibility 1 Frings Truncation AR Audiogenic 7
a

AR, autosomal recessive; AD, autosomal dominant; XR, X-linked recessive.