Kcnq2-related Disorders
What's New
Last Posted: Feb 25, 2023
- Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.
Xu Yan, et al. BMC pediatrics 2021 0 (1) 477 - Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
Mary Laura, et al. American journal of medical genetics. Part A 2021 0 (6) 1803-1815 - Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders.
Xiao Tiantian, et al. Frontiers in molecular neuroscience 2022 0 809810 - KCNQ2-Related Disorders
From NCATS Genetic and Rare Diseases Information Center
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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