EFHC1
MIM.608815 6p12-p11
EF hand motif connected by a calcium binding loop.
Pathology
germline mutations in
- juvenile myoclonic epilepsy locus 1 (JME1) (MIM.254770)
- juvenile absence epilepsy (MIM.607631)
EF hand motif connected by a calcium binding loop.
Pathology
germline mutations in
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