Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy |
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| Affiliation: | 1. Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil;2. Mendelics Genomic Analysis, São Paulo, Brazil;3. Department of Neurology, University of São Paulo School of Medicine, Brazil;1. Epilepsy Unit, Department of Neurology, Hospital Ruber Internacional. Madrid, Spain;2. Neuroscience Research Unit, CIEN Foundation, Carlos III Institute of Health. Madrid, Spain;1. Department of Medicine and Surgery, University of Parma, Parma, Italy;2. Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy;3. Department of Psychiatry, University of Siena, Siena, Italy;1. Department of Pediatrics, Teikyo University Hospital, Japan;2. Division of Neurology, National Center for Child Health and Development, Japan;1. Department of Neurology, Hyogo Prefectural Kobe Children’s Hospital, Hyogo, Japan;2. Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan;1. Department of Pediatrics, Tsuchiura Kyodo General Hospital, Ibaraki, Japan;2. Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan;3. Department of Neurosurgery, National Center of Neurology and Psychiatry, Tokyo, Japan;4. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan;5. College of Nursing and Nutrition, Shukutoku University, Tokyo, Japan;1. Division of Neurology, Department of Pediatrics, Cincinnati Children''s Hospital Medical Center and University of Cincinnati, Cincinnati, OH, 45229, USA;2. Department of Neurology, Wake Forest Baptist Medical Center, 1 Medical Center Blvd, Winston Salem, NC, 27157, USA;3. Department of Neurology, University of North Carolina Medical Center, 170 Manning Dr, Chapel Hill, NC, 27599, USA;4. Department of Neurology, Benioff Children''s Hospital, University of California San Francisco, 1975 4th St, San Francisco, CA, USA, 94118;5. Department of Pediatrics and Institute of Clinical and Experimental Research, University Hospital Saint-Luc, University of Louvain, Avenue Hippocrate 10, 1200, Bruxelles, Belgium |
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| Abstract: | IntroductionKCNT2 was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy.Case reportWe present an additional observation of a 16-year-old male patient with a novel de novo KCNT2 likely pathogenic variant and review the five previously reported cases of de novo variants in this gene.DiscussionWhole exome sequencing identified the missense variant c.725C > A p.(Thr242Asn), which was confirmed by Sanger sequencing. Our patient has a refractory stereotyped and monomorphic type of hyperkinetic focal motor seizure, similar to what is seen in frontal lobe epilepsy, occurring only during sleep. This type of seizure is not usually seen in epileptic encephalopathies. |
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| Keywords: | Epilepsy Epileptic Encephalopathy |
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