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KMID : 0918520190190010026
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Journal of the Korean Society of Inherited Metabolic Disease
2019 Volume.19 No. 1 p.26 ~ p.30
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A Case of Epilepsy with Mental Retardation Limited to Females in a Patient with PCDH19 Mutation Confirmed using an Epilepsy Gene Panel
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Kim Hyo-Jin
Yu Hee-Joon
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Abstract
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PCDH19-related epilepsy is an inherited disease occurring in female patients and characterized by early onset seizure, intellectual disability, and behavioral disturbances. It is caused by de novo or familial heterozygous variation of the PCDH19 gene located on Xq22.1. Our patient was hospitalized for multiple focal seizures. The magnetic resonance imaging was normal and electroencephalogram showed focal epileptiform discharges. The child’s development did not progress; she began to manifest, cognitive, behavioral and language delays. Because of that, we performed an epilepsy gene panel test. We report a case of epilepsy with mental retardation limited to female patients with mutation of PCDH19.
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KEYWORD
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EFMR, PCDH19, X-linked inheritance
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