eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | leukodystrophy |
| Comorbidity | C0270850|idiopathic generalized epilepsy |
| Sentences | 1 |
| PubMedID- 25883547 | However, although initially in humans clc-2 loss- and gain-of function mutations were linked to idiopathic generalized epilepsy with no apparent leukodystrophy (haug et al., 2003), a recent study has revealed that autosomal-recessive clcn2 mutations cause a leukoencephalopathy characterized by intramyelinic oedema (depienne et al., 2013). |
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