Genopathy
Gene-Disorder Association · Article
Gene
SAMHD1
SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1
Disorder
Generalized Epilepsy
First reported 1950
Key publication · disorder [Effect of frontal resection and especially of the resection of the internal frontal cortex in generalized epilepsy].Revue neurologique · 1950
Manually curated
Association Review

In brief

The association between SAMHD1 (SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1) and Generalized Epilepsy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 2
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
SAMHD1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Generalized Epilepsy

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Provenance

References & sources

3 references

Every source and publication cited across this dossier, as one numbered reference list.

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