Epilepsy, Progressive Myoclonic, 6 (EPM6)

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OMIM 57 614018 Orphanet 59 ORPHA280620 ICD10 via Orphanet 34 G40.3 MedGen 42 C3279627

MeSH 44 D020191 SNOMED-CT via HPO 69 258211005 85102008 8011004 349006 37280007 127324008 17450006 26079004 230413002 432241000124101 50866000 79631006 228158008 111266001 64217002 252157006 255314001 189198006 42365007 more UMLS 73 C3279627

OMIM : ⁵⁷ Progressive myoclonic epilepsy-6 is an autosomal recessive neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade (summary by Corbett et al., 2011). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). (614018)

MalaCards based summary : Epilepsy, Progressive Myoclonic, 6, also known as epilepsy, progressive myoclonic 6, is related to gosr2-related progressive myoclonus ataxia and epilepsy, and has symptoms including seizures, ataxia and absence seizures. An important gene associated with Epilepsy, Progressive Myoclonic, 6 is GOSR2 (Golgi SNAP Receptor Complex Member 2). Related phenotypes are ataxia and dysarthria

UniProtKB/Swiss-Prot : ⁷⁵ Epilepsy, progressive myoclonic 6: A neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade.

Clinical features from OMIM:

614018

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 6

Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic, 6.