start-ver=1.4
cd-journal=joma
no-vol=64
cd-vols=
no-issue=5
article-no=
start-page=759
end-page=762
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2025
dt-pub=20250301
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy
en-subtitle=
kn-subtitle=
en-abstract=
kn-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.
en-copyright=
kn-copyright=

en-aut-name=MitsutakeAkihiko
en-aut-sei=Mitsutake
en-aut-mei=Akihiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=MatsukawaTakashi
en-aut-sei=Matsukawa
en-aut-mei=Takashi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=NaitoTatsuhiko
en-aut-sei=Naito
en-aut-mei=Tatsuhiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=IshiuraHiroyuki
en-aut-sei=Ishiura
en-aut-mei=Hiroyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=MitsuiJun
en-aut-sei=Mitsui
en-aut-mei=Jun
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=HaradaHiroaki
en-aut-sei=Harada
en-aut-mei=Hiroaki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=FujioKeishi
en-aut-sei=Fujio
en-aut-mei=Keishi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=FujishiroJun
en-aut-sei=Fujishiro
en-aut-mei=Jun
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=MoriHarushi
en-aut-sei=Mori
en-aut-mei=Harushi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=MorishitaShinichi
en-aut-sei=Morishita
en-aut-mei=Shinichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=TsujiShoji
en-aut-sei=Tsuji
en-aut-mei=Shoji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

en-aut-name=TodaTatsushi
en-aut-sei=Toda
en-aut-mei=Tatsushi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=12
ORCID=

affil-num=1
en-affil=Department of Neurology, Graduate School of Medicine, The University of Tokyo
kn-affil=

affil-num=2
en-affil=Department of Neurology, Graduate School of Medicine, The University of Tokyo
kn-affil=

affil-num=3
en-affil=Department of Neurology, Graduate School of Medicine, The University of Tokyo
kn-affil=

affil-num=4
en-affil=Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=5
en-affil=Department of Neurology, Graduate School of Medicine, The University of Tokyo
kn-affil=

affil-num=6
en-affil=Department of Rheumatology and Allergy, Graduate School of Medicine, The University of Tokyo
kn-affil=

affil-num=7
en-affil=Department of Rheumatology and Allergy, Graduate School of Medicine, The University of Tokyo
kn-affil=

affil-num=8
en-affil=Department of Pediatric Surgery, Graduate School of Medicine, The University of Tokyo
kn-affil=

affil-num=9
en-affil=Department of Radiology, School of Medicine, Jichi Medical University
kn-affil=

affil-num=10
en-affil=Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo
kn-affil=

affil-num=11
en-affil=Department of Neurology, Graduate School of Medicine, The University of Tokyo
kn-affil=

affil-num=12
en-affil=Department of Neurology, Graduate School of Medicine, The University of Tokyo
kn-affil=
en-keyword=epileptic encephalopathy
kn-keyword=epileptic encephalopathy
en-keyword=whole-exome sequencing
kn-keyword=whole-exome sequencing
en-keyword=KCNH5
kn-keyword=KCNH5
en-keyword=de novo variant
kn-keyword=de novo variant
END