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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1007/s11144-012-0470-0

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1432-1203

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Familial autosomal dominant reflex epilepsy trigge

Authors: Rinki Ratnapriya Parthasarthy Satishchandra S Dilip Girish Gadre Anuranjan Anand
Publish Date: 2009/07/14
Volume: 126, Issue: 5, Pages: 677-683
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Abstract

Hot water epilepsy is a reflex or sensory epilepsy in which seizures are triggered by the stimulus of bathing in hot water Although there is evidence of a genetic basis to its etiology no gene associated with this disorder has so far been found In order to identify the genetic locus involved in the pathophysiology of hot water epilepsy we performed a genomewide linkage analysis in a fourgeneration family manifesting the disorder in an autosomal dominant manner Significant linkage was detected on chromosome 4q24q28 with the highest twopoint LOD score of 350 at recombination value θ of 0 for the marker D4S402 Centromereproximal and centromeredistal boundaries of this locus were defined by the markers D4S1572 and D4S2277 respectively The critical genetic interval spans 225 cM and corresponds to about 24 megabases of DNA The genes NEUROG2 ANK2 UGT8 and CAMK2D which are known to be expressed in human brain are strong positional candidates and we propose to examine these and other genes in the locus to identify the causative gene for this intriguing form of epilepsyWe thank all the family members for participation in the study We thank Sharat Chandra and Prakash for critical reading and comments on the manuscript RR acknowledges receipt of a research fellowship from CSIR New Delhi This work was supported by funds from DAE Mumbai ICMR New Delhi and JNCASR Bangalore

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