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Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy
Pu Miao1, Siyang Tang2, Jia Ye2
1Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Molecular Genetics & Genomic Medicine
|May 14, 2020
Summary
This study links SCN2A gene variants to developmental epileptic encephalopathy (DEE) phenotypes. Gain-of-function variants cause severe intellectual disability, while loss-of-function variants lead to moderate delays and choreoathetosis.
Area of Science:
- Neuroscience
- Genetics
- Pharmacology
Background:
- SCN2A-related developmental epileptic encephalopathy (DEE) is a severe neurological disorder.
- Understanding the genotype-phenotype-funotype relationships is crucial for effective treatment.
