Preferred Name

Progressive Myoclonic Epilepsy
Synonyms
Definitions

A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME (MeSH).

ID

http://uri.neuinfo.org/nif/nifstd/birnlex_12722

createdDate

2007-10-08

definition

A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME (MeSH).

editorial note

http://uri.neuinfo.org/nif/nifstd/readable/uncurated

hasBirnlexCurator

http://uri.neuinfo.org/nif/nifstd/readable/Bill_Bug

hasCurationStatus

http://uri.neuinfo.org/nif/nifstd/readable/uncurated

hasDefinitionSource

http://uri.neuinfo.org/nif/nifstd/readable/MeSH_defSource

hasExternalSource

http://uri.neuinfo.org/nif/nifstd/readable/MeSH

label

Progressive Myoclonic Epilepsy

MeshUid

D020191

modifiedDate

2007-10-08

note

A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME (MeSH).

http://uri.neuinfo.org/nif/nifstd/readable/uncurated

preferred label

Progressive Myoclonic Epilepsy

putativeClassExtension

Biotin-Responsive Encephalopathy

Atypical Inclusion-Body Disease

Action Myoclonus-Renal Failure Syndrome

Dentatorubral-Pallidoluysian Atrophy

Familial Progressive Myoclonic Epilepsy

May-White Syndrome

usageNote

MeSH includes implied subtypes

subClassOf

http://uri.neuinfo.org/nif/nifstd/birnlex_12719

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