MCID: EPL201
MIFTS: 25

Epilepsy, Familial Adult Myoclonic, 1

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 1

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 1:

Name: Epilepsy, Familial Adult Myoclonic, 1 57 73
Cortical Myoclonic Tremor with Epilepsy, Familial, 1; Fcmte1 57
Cortical Myoclonic Tremor with Epilepsy, Familial, 1 57
Benign Adult Familial Myoclonic Epilepsy 1; Bafme1 57
Epilepsy, Myoclonic, Familial Adult, Type 1 40
Benign Adult Familial Myoclonic Epilepsy 1 57
Epilepsy, Myoclonic, Familial Adult, 1 57
Epilepsy, Myoclonic, Adult Familial, 1 13
Bafme1 57
Fcmte1 57
Fame1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
childhood onset has been reported
adult onset (mean age 37 years)
nonprogressive course
tremor may be elicited by movement or postural maintenance
tremor is aggravated by emotional stress
clinically resembles essential tremor, but not responsive to beta-adrenergic blockers
anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines)
genetic heterogeneity (see bafme2, )


HPO:

32
epilepsy, familial adult myoclonic, 1:
Onset and clinical course adult onset nonprogressive
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Familial Adult Myoclonic, 1

OMIM : 57 Familial cortical myoclonic tremor associated with epilepsy (FCMTE) is characterized by an autosomal dominant inheritance, adult-onset cortical myoclonus, and seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010). (601068)

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 1, also known as cortical myoclonic tremor with epilepsy, familial, 1; fcmte1, is related to epilepsy, familial adult myoclonic, 2 and benign adult familial myoclonic epilepsy. An important gene associated with Epilepsy, Familial Adult Myoclonic, 1 is FCMTE1 (Familial Cortical Myoclonic Tremor With Epilepsy 1). The drugs Fenofibrate and Antimetabolites have been mentioned in the context of this disorder. Related phenotypes are intellectual disability and giant somatosensory evoked potentials

Related Diseases for Epilepsy, Familial Adult Myoclonic, 1

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic:
mental retardation has been reported
involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers
movements ('tremors') characterized by 8 to 10-hz discharges
generalized tonic-clonic seizures (gtcs), infrequent
eeg shows generalized and focal spike and wave complexes
more

Clinical features from OMIM:

601068

Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 1:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 occasional (7.5%) HP:0001249
2 giant somatosensory evoked potentials 32 HP:0001312
3 eeg with irregular generalized spike and wave complexes 32 HP:0001326
4 tremor 32 HP:0001337
5 enhancement of the c-reflex 32 HP:0001340
6 jerk-locked premyoclonus spikes 32 HP:0001351
7 generalized tonic-clonic seizures 32 HP:0002069
8 generalized myoclonic seizures 32 HP:0002123
9 eeg with photoparoxysmal response 32 HP:0010852

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 1

Drugs for Epilepsy, Familial Adult Myoclonic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fenofibrate Approved Phase 3 49562-28-9 3339
2 Antimetabolites Phase 3
3 Hypolipidemic Agents Phase 3
4 Lipid Regulating Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Trial in Adults With Type 1 Diabetes Mellitus Evaluating the Effects of Fenofibrate Versus Placebo on Macular Thickness and Volume Unknown status NCT01320345 Phase 3 Fenofibrate;Inert lactose placebo

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GO Terms for Epilepsy, Familial Adult Myoclonic, 1

Sources for Epilepsy, Familial Adult Myoclonic, 1

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17 ExPASy
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30 HGMD
31 HMDB
32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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