- Infantile nystagmus syndrome: Promise and pitfalls of genetic testing
-
Oh EH, Choi JH
- KMID: 2557480
- J Genet Med.
- 2024 Jun;21(1):14-21.
- doi: 10.5734/JGM.2024.21.1.14
Infantile nystagmus syndrome (INS) refers to congenital forms of nystagmus that are present at birth or during infancy. This syndrome may be caused by afferent visual system disorders or abnormal... -
- CITED
-
- Close
- SHARE
-
- Close
- Understanding and managing patients with adult rare diseases
-
Moon J
- KMID: 2557478
- J Genet Med.
- 2024 Jun;21(1):1-5.
- doi: 10.5734/JGM.2024.21.1.1
Despite advances in the diagnosis and management of rare diseases (RDs), there remains a tendency to overlook adult RD patients. In addition to the considerable number of adult-onset RDs, advances... -
- CITED
-
- Close
- SHARE
-
- Close
- Mutation spectrum of NF1 gene in Korean unrelated patients with neurofibromatosis 1: Six novel pathogenic variants
-
Han SH, Kang EJ, Yang M, Kim S, Lee SG, Lee EH
- KMID: 2557481
- J Genet Med.
- 2024 Jun;21(1):22-30.
- doi: 10.5734/JGM.2024.21.1.22
Purpose: Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases caused by heterozygous mutation in the NF1 gene. Mutation detection is complex owing to the large size... -
- CITED
-
- Close
- SHARE
-
- Close
- Using zebrafish as an animal model for studying rare neurological disorders: A human genetics perspective
-
Don DW, Choi TI, Kim TY, Lee KH, Lee Y, Kim CH
- KMID: 2557479
- J Genet Med.
- 2024 Jun;21(1):6-13.
- doi: 10.5734/JGM.2024.21.1.6
Rare diseases are characterized by a low prevalence, which often means that patients with such diseases are undiagnosed and do not have effective treatment options. Neurodevelopmental and neurological disorders make... -
- CITED
-
- Close
- SHARE
-
- Close
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode with m.3243A>G variant involving the cerebellum and basal ganglia
-
Koo C, Yang J, Kim JR, Yu J
- KMID: 2557483
- J Genet Med.
- 2024 Jun;21(1):36-40.
- doi: 10.5734/JGM.2024.21.1.36
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome is a maternally inherited mitochondrial disorder that usually affects the cerebral cortex and prevents high-energy demands from being met. Herein, we... -
- CITED
-
- Close
- SHARE
-
- Close
- Late-onset drug resistant epilepsy in an adolescent with Allan-Herndon-Dudley syndrome
-
Park S, Shin YL, Seo GH, Hong YH
- KMID: 2557482
- J Genet Med.
- 2024 Jun;21(1):31-35.
- doi: 10.5734/JGM.2024.21.1.31
Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS... -
- CITED
-
- Close
- SHARE
-
- Close
