Epilepsy, progressive myoclonic, 2b- MedGen UID:
- 340621
- •Concept ID:
- C1850764
- •
- Disease or Syndrome
The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, difficulties in school work, myoclonic jerks, generalized seizures, and often visual hallucination. The myoclonus, seizures, and hallucinations gradually worsen and become intractable. This is accompanied by progressive cognitive decline, resulting in dementia. About 10 years after onset, affected individuals are in near-continuous myoclonus with absence seizures, frequent generalized seizures, and profound dementia or a vegetative state. Histologic studies of multiple tissues, including brain, muscle, liver, and heart show intracellular Lafora bodies, which are dense accumulations of malformed and insoluble glycogen molecules, termed polyglucosans (review by Ramachandran et al., 2009). There is a slower progression of disease and later age at death in Lafora disease-2 than in Lafora disease-1 (MELF1, EPM2A; 254780); see Genotype/Phenotype Correlations.
Myoclonic epilepsy of Lafora-1 is caused by mutation in the EPM2A gene (608072), which encodes laforin, on chromosome 6q24.
For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).
Familial temporal lobe epilepsy 4- MedGen UID:
- 368897
- •Concept ID:
- C1968847
- •
- Disease or Syndrome
A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.
Epilepsy, familial adult myoclonic, 5- MedGen UID:
- 815704
- •Concept ID:
- C3809374
- •
- Disease or Syndrome
Early-onset epilepsy-5 with or without developmental delay (EPEO5) is an autosomal recessive neurologic disorder characterized by the onset of various types of seizures late in the first decade or during adolescence. Focal seizures are common. Most affected individuals have developmental delay, variable impaired intellectual development, and/or behavioral and neuropsychiatric abnormalities (Stogmann et al., 2013; Abdulkareem et al., 2023).
For a discussion of genetic heterogeneity of EPEO, see 617290.
Epilepsy, familial temporal lobe, 1- MedGen UID:
- 1643229
- •Concept ID:
- C4551957
- •
- Disease or Syndrome
Autosomal dominant epilepsy with auditory features (ADEAF) is a focal epilepsy syndrome with auditory symptoms and/or receptive aphasia as prominent ictal manifestations. The most common auditory symptoms are simple unformed sounds including humming, buzzing, or ringing; less common forms are distortions (e.g., volume changes) or complex sounds (e.g., specific songs or voices). Ictal receptive aphasia consists of a sudden onset of inability to understand language in the absence of general confusion. Less commonly, other ictal symptoms may occur, including sensory symptoms (visual, olfactory, vertiginous, or cephalic) or motor, psychic, and autonomic symptoms. Most affected individuals have focal to bilateral tonic-clonic seizures, usually accompanied by "focal aware" and "focal impaired-awareness" seizures, with auditory symptoms as a major focal aware seizure manifestation. Some persons have seizures precipitated by sounds such as a ringing telephone. Age at onset is usually in adolescence or early adulthood (range: age 4-50 years). The clinical course of ADEAF is benign. Seizures are usually well controlled after initiation of medical therapy.