Khaled Hundallah1, Asma'a Alenizi1, Amal AlHashem2, Brahim Tabarki3. 1. Division of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. 2. Division of Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. 3. Division of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Electronic address: btabarki@hotmail.com.
Abstract
BACKGROUND: Recently, de novo loss- or gain-of-function mutations in the KCNA2 gene; have been described in individuals with epileptic encephalopathy, ataxia or intellectual disability. CASE DESCRIPTION: In this report, we describe a further case of KCNA2-early-onset epileptic encephalopathy. The patient presented since birth with intractable seizures, progressive microcephaly, developmental delay, and progressive brain atrophy. Whole-exome sequencing showed a novel de novo mutation in the KCNA2 gene: c.1120A > G (p.Thr374Ala). CONCLUSION: This case expands the genotypic and phenotypic disease spectrum of this genetic form of KCNA2-early onset epileptic encephalopathy.
BACKGROUND: Recently, de novo loss- or gain-of-function mutations in the KCNA2 gene; have been described in individuals with epilepticencephalopathy, ataxia or intellectual disability. CASE DESCRIPTION: In this report, we describe a further case of KCNA2-early-onset epilepticencephalopathy. The patient presented since birth with intractable seizures, progressive microcephaly, developmental delay, and progressive brain atrophy. Whole-exome sequencing showed a novel de novo mutation in the KCNA2 gene: c.1120A > G (p.Thr374Ala). CONCLUSION: This case expands the genotypic and phenotypic disease spectrum of this genetic form of KCNA2-early onset epilepticencephalopathy.
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