Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.030 GeneticVariation group BEFREE Movement disorders are increasingly identified in infantile encephalopathies due to single gene disorders (e.g.SCN2A, CDKL5, ARX). 29778428 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.030 GeneticVariation group BEFREE Our findings broaden the clinical spectrum of SCN2A mutations, which resembles clinical phenotypes of SCN1A mutations by manifesting as fever sensitive seizures, and highlights that SCN2A mutations are an important cause of early-onset epileptic encephalopathies with movement disorders. 28709814 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.030 GeneticVariation group BEFREE We report the case of a girl with severe infantile onset epileptic encephalopathy and a de novo missense mutation in the SCN2A gene (c.4025T > C/ = ; p.L1342P/ = ), who presented with a transient choreatic movement disorder, hypersomnia, and progressive brain atrophy. 24710820 2014