Disease

familial adult myoclonic epilepsy 7

Name: familial adult myoclonic epilepsy 7
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0111694 familial adult myoclonic epilepsy 7 A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. familial cortical myoclonic tremor and epilepsy 7 BAFME7 FCMTE7 benign adult familial myoclonic epilepsy 7 FAME7

Definition

A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1.

Synonyms

BAFME7
benign adult familial myoclonic epilepsy 7

Cross References

MIM:618075

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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