Jong H. Chae

Seoul, Republic of Korea

Last Updated: 09/26/2026

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Found 69 publications

Case Report: Epileptic phenotype in a patient with a MARK2 variant: the first detailed description and review of the literature.

Case Report: Epileptic phenotype in a patient with a MARK2 variant: the first detailed description and review of the literature.

Journal: Frontiers in pediatrics

Published: December 16, 2025

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series.

Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series.

Journal: BMC ophthalmology

Published: July 14, 2025

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Journal: Nature genetics

Published: June 24, 2025

Switching from oxcarbazepine to eslicarbazepine in pediatric patients with focal epilepsy is safe and well-tolerated.

Switching from oxcarbazepine to eslicarbazepine in pediatric patients with focal epilepsy is safe and well-tolerated.

Journal: Epilepsy & behavior : E&B

Published: April 14, 2025

Pediatric new-onset super-refractory status epilepticus (NOSRSE): a case-series.

Pediatric new-onset super-refractory status epilepticus (NOSRSE): a case-series.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: December 30, 2024

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Journal: Nature genetics

Published: October 03, 2024

Analysis of initial seizure characteristics in patients with infantile onset genetic epilepsy.

Analysis of initial seizure characteristics in patients with infantile onset genetic epilepsy.

Journal: Brain & development

Published: August 29, 2024

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients.

Journal: Journal of movement disorders

Published: March 03, 2024

Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22.

Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22.

Journal: Scientific reports

Published: January 24, 2024

Unraveling the diagnostic odyssey: stimulator of interferon gene-associated vasculopathy with onset in infancy in a 30-year-old female.

Unraveling the diagnostic odyssey: stimulator of interferon gene-associated vasculopathy with onset in infancy in a 30-year-old female.

Journal: Journal of rheumatic diseases

Published: October 30, 2023

Expanding association between BICD2 variants and brain malformations and associated lissencephaly.

Expanding association between BICD2 variants and brain malformations and associated lissencephaly.

Journal: Clinical and experimental pediatrics

Published: August 14, 2023

Showing 1-12 of 69

Last Updated: 09/26/2026