Disease

familial adult myoclonic epilepsy 1

Name: familial adult myoclonic epilepsy 1
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0111690 familial adult myoclonic epilepsy 1 A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. benign adult familial myoclonic epilepsy 1 FCMTE1 FAME1 familial cortical myoclonic tremor and epilepsy 1 BAFME1

Definition

A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12.

Synonyms

BAFME1
benign adult familial myoclonic epilepsy 1

Cross References

MIM:601068

Parent Terms

autosomal dominant disease
familial adult myoclonic epilepsy

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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