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SCN2A Phenotype Analysis Could Improve Outcomes for Childhood Epilepsies – Clinical OMICs News
Disease-causing variants in the SCN2A gene are one of the most common causes of developmental and epileptic encephalopathies. An in-depth phenotype analysis including…
An in-depth phenotype analysis, led by researchers at the Children’s Hospital of Philadelphia, including more than 400 people with a neurological disorder caused by variants in the SCN2A gene, could help improve diagnosis and treatment for carriers of these variants in the future.
SCN2A encodes a sodium channel protein present in neurons. Disease-causing variants in this gene are one of the most common causes of developmental and epileptic encephalopathies a group of childhood epilepsies also linked…
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