EFHC1

Gene name: EF-hand domain (C-terminal) containing 1
OMIM ID: 608815
Chromosome location: 6p12.2

Mutations

Disease/Phenotype	Epilepsy, myoclonic juvenile
Reference transcript	NM_018100.3
DNA Change	c.685T>C
A.A. Change	p.Phe229Leu
Exon/Intron	exon 4
Mutation Type	substitution
Reference	Berger I, Dor T, Halvardson J, Edvardson S, Shaag A, Feuk L, Elpeleg O.Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene. Epilepsia. 2012 Aug;53(8):1436-40.

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