Yong S. Hwang

Seoul, Republic of Korea

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 31 publications

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

Journal: Annals of neurology

Published: March 10, 2017

Painful legs and moving toes syndrome in a 16-year-old girl.

Painful legs and moving toes syndrome in a 16-year-old girl.

Journal: Korean journal of pediatrics

Published: May 11, 2016

Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome.

Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome.

Journal: Journal of clinical neurology (Seoul, Korea)

Published: July 03, 2015

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.

Journal: Gene

Published: February 11, 2015

Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: December 16, 2014

Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus.

Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus.

Journal: Clinical chemistry

Published: November 18, 2014

Effectiveness of intravenous levetiracetam as an adjunctive treatment in pediatric refractory status epilepticus.

Effectiveness of intravenous levetiracetam as an adjunctive treatment in pediatric refractory status epilepticus.

Journal: Pediatric emergency care

Published: July 26, 2014

Screening Autoimmune Anti-neuronal Antibodies in Pediatric Patients with Suspected Autoimmune Encephalitis.

Screening Autoimmune Anti-neuronal Antibodies in Pediatric Patients with Suspected Autoimmune Encephalitis.

Journal: Journal of epilepsy research

Published: July 03, 2014

FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome.

FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome.

Journal: Child neurology open

Published: June 09, 2014

Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

Journal: Epilepsy research

Published: May 21, 2014

Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

Journal: Brain & development

Published: February 28, 2014

Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

Journal: Gene

Published: February 13, 2014

Showing 1-12 of 31

Last Updated: 09/26/2026