[P3-1~146] Poster Presentation 3

[P3-73] Genetic Studies of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome

^○Sawako YAMAZAKI^{1, 2} (1.Department of Pediatrics, Niigata University, Niigata, Japan, 2.Department of Pediatrics, Nagaoka Institute for Severely Handicapped Children, Niigata, Japan)

[Introduction] Hemiconvulsion-hemiplegia-epilepsy syndrome (HHE syndrome) is a rare condition and is characterized by sudden, prolonged unilateral seizures in infancy and early childhood. The pathogenesis of HHE syndrome is not well understood, particularly why it manifests with unilateral lesions. [Methods] We recruited 13 Japanese patients with HHE syndrome or similar clinical syndromes of HHE syndrome. We used the PCR direct sequencing method to sequence all exons of CACNA1A. All patients who had no CACNA1A mutation underwent analysis of all exons in PRRT2, SCN1A, ATP1A2 and ATP1A3. [Results] We detected the CACNA1A p.His1826Arg mutation in a girl who had developed recurrent acute encephalopathy with unilateral lesions, and detected the ATP1A2 p.Arg908Gln mutation in a boy who developed hemiplegic migraine (HM). No known genetic mutation was identified in acute encephalopathy with biphasic seizures and late reduced diffusion. [Conclusions] Children with recurrent acute encephalopathy with unilateral lesions may involve with HM.