Epilepsy, Hot Water, 2

For a general phenotypic description and a discussion of genetic heterogeneity of hot water epilepsy, see HWE1 (613339).

Clinical Features

Ratnapriya et al. (2009) reported a 4-generation family from southern India in which 10 individuals had hot water epilepsy. All had complex partial seizures precipitated by a hot water head bath. The proband also developed secondary generalized tonic-clonic seizures. Two other affected individuals had a history of febrile seizures (121210).

Inheritance

The inheritance pattern of hot water epilepsy in the family reported by Ratnapriya et al. (2009) was autosomal dominant with reduced penetrance.

Mapping

By genomewide analysis of a large 4-generation family from southern India with hot water epilepsy, Ratnapriya et al. (2009) found linkage to chromosome 4q24-q28 (maximum 2-point lod score of 3.50 at D4S402). Haplotype analysis identified a 24.0-Mb (22.5-cM) region on chromosome 4q24-q28 between markers D4S1572 and D4S2277.