{Reference Type}: Journal Article
{Title}: A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy.
{Author}: Mitsutake A;Matsukawa T;Naito T;Ishiura H;Mitsui J;Harada H;Fujio K;Fujishiro J;Mori H;Morishita S;Tsuji S;Toda T;
{Journal}: Intern Med
{Volume}: 0
{Issue}: 0
{Year}: 2024 Aug 1
{Factor}: 1.282
{DOI}: 10.2169/internalmedicine.3999-24
{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.