Epilepsy, idiopathic generalized, susceptibility to, 12(EIG12)

MedGen UID:: 766773
•Concept ID:: C3553859
•: Finding

Synonym:	EIG12

Gene (location): Gene(s) directly associated with this condition or phenotype.	SLC2A1 (1p34.2)

Monarch Initiative:	MONDO:0013919
OMIM®:	614847

Clinical features

From HPO

Bilateral tonic-clonic seizure

MedGen UID:: 141670
•Concept ID:: C0494475
•: Sign or Symptom

A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Abnormality of the nervous system
- Bilateral tonic-clonic seizure
- Intellectual disability

Recent clinical studies

Etiology

Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.

Rozycka A, Dorszewska J, Steinborn B, Lianeri M, Winczewska-Wiktor A, Sniezawska A, Wisniewska K, Jagodzinski PP
DNA Cell Biol 2013 Nov;32(11):640-7. Epub 2013 Sep 11 doi: 10.1089/dna.2012.1880. PMID: 24024466 Free PMC Article

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Clinical prediction guides

Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.

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Epilepsy, idiopathic generalized, susceptibility to, 12(EIG12)

Clinical features

Recent clinical studies

Etiology

Clinical prediction guides

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Genetic Testing Registry

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