Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization (MMERV)

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OMIM 58 618113 MeSH 45 D004660

MedGen 43 CN253827 SNOMED-CT via HPO 70 128613002 162294008 229721007 246545002 29164008 313307000 62415009 84757009 91175000 more

OMIM : ⁵⁸ MMERV is an episodic acute reversible encephalopathy that occurs in children and is frequently associated with a trigger, such as a febrile illness. Affected individuals have impaired consciousness, delirious behavior, and/or seizures with lip smacking or eye deviation. These changes are associated with white matter lesions in the brain that often occur in the splenium of the corpus callosum, but may occur in surrounding areas. The acute phase of the disorder can be treated with steroids, and most patients make a full neurologic recovery between episodes with no sequelae (summary by Kurahashi et al., 2018). (618113)

MalaCards based summary : Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization, also known as mmerv, is related to severe acute respiratory syndrome and encephalopathy. An important gene associated with Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization is MYRF (Myelin Regulatory Factor). Affiliated tissues include brain, eye and prostate, and related phenotypes are seizures and delayed speech and language development

UniProtKB/Swiss-Prot : ⁷⁶ Encephalitis/encephalopathy, mild, with reversible myelin vacuolization: An autosomal dominant disease characterized by episodes of acute encephalitis associated with impaired consciousness, delirious behavior, seizures, and reversible splenial lesions observed on diffusion magnetic resonance imaging. Most patients completely recover and there are no neurologic sequelae. MMERV occurs in children and is frequently associated with a trigger, such as a febrile illness.

Clinical features from OMIM:

618113

Search Clinical Trials , NIH Clinical Center for Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization

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