| ID | 68908 |
| FullText URL | |
| Author |
Mitsutake, Akihiko
Department of Neurology, Graduate School of Medicine, The University of Tokyo
Matsukawa, Takashi
Department of Neurology, Graduate School of Medicine, The University of Tokyo
Naito, Tatsuhiko
Department of Neurology, Graduate School of Medicine, The University of Tokyo
Ishiura, Hiroyuki
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Mitsui, Jun
Department of Neurology, Graduate School of Medicine, The University of Tokyo
Harada, Hiroaki
Department of Rheumatology and Allergy, Graduate School of Medicine, The University of Tokyo
Fujio, Keishi
Department of Rheumatology and Allergy, Graduate School of Medicine, The University of Tokyo
Fujishiro, Jun
Department of Pediatric Surgery, Graduate School of Medicine, The University of Tokyo
Mori, Harushi
Department of Radiology, School of Medicine, Jichi Medical University
Morishita, Shinichi
Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo
Tsuji, Shoji
Department of Neurology, Graduate School of Medicine, The University of Tokyo
Toda, Tatsushi
Department of Neurology, Graduate School of Medicine, The University of Tokyo
|
| Abstract | We herein report a novel de novo KCNH5 variant in a patient with refractory epileptic encephalopathy. The patient exhibited seizures at 1 year and 7 months old, which gradually worsened, leading to a bedridden status. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and cerebellar hypoplasia. A trio whole-exome sequence analysis identified a de novo heterozygous c.640A>C, p.Lys214Gln variant in KCNH5 that was predicted to be deleterious. Recent studies have linked KCNH5 to various epileptic encephalopathies, with many patients showing normal MRI findings. The present case expands the clinical spectrum of the disease, as it is characterized by severe neurological prognosis, cerebral atrophy, and cerebellar hypoplasia.
|
| Keywords | epileptic encephalopathy
whole-exome sequencing
KCNH5
de novo variant
|
| Published Date | 2025-03-01
|
| Publication Title |
Internal Medicine
|
| Volume | volume64
|
| Issue | issue5
|
| Publisher | Japanese Society of Internal Medicine
|
| Start Page | 759
|
| End Page | 762
|
| ISSN | 0918-2918
|
| NCID | AA10827774
|
| Content Type |
Journal Article
|
| language |
English
|
| OAI-PMH Set |
岡山大学
|
| Copyright Holders | © 2025 by The Japanese Society of Internal Medicine
|
| File Version | publisher
|
| PubMed ID | |
| DOI | |
| Web of Science KeyUT | |
| Related Url | isVersionOf https://doi.org/10.2169/internalmedicine.3999-24
|
| License | https://creativecommons.org/licenses/ by-nc-nd/4.0/
|
| Funder Name |
Japan Agency for Medical Research and Development
|
| 助成番号 | 20ek0109491h0001
21ek0109491h0002
22ek0109491h0003
23ek0109673h0001
|
