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generalized epilepsy with febrile seizures plus, type 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

generalized epilepsy with febrile seizures plus, type 12

MONDO:0958324

Overview

GeneticsAutosomal dominant · SLC32A1 (chr 20)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Generalized-onset seizure and Seizure; and common findings: Febrile seizure (within the age range of 3 months to 6 years). 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Seizure

Explore clinical features

Genetic Landscape

SLC32A1 function has not been fully characterized.

Generalized epilepsy with febrile seizures plus, type 12 is associated with mutations in the SLC32A1 gene on chromosome 20.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for SLC32A1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for generalized epilepsy with febrile seizures plus, type 12 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for generalized epilepsy with febrile seizures plus, type 12.

1 publication has been identified in PubMed for generalized epilepsy with febrile seizures plus, type 12. Research spans Diagnostic / Biomarker (100%).

Recent Publications

LaFlamme CW (2024). [PMID: 39107278](https://pubmed.ncbi.nlm.nih.gov/39107278/). *Nat Commun*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620755

Questions for Your Care Team

→Should I pursue genetic testing for SLC32A1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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generalized epilepsy with febrile seizures plus, type 12

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team