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developmental and epileptic encephalopathy, 19 (DEE19) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 19

MONDO:0014328

Also known as:DEE19EIEE19Early Infantile epileptic encephalopathy 19

Overview

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.

GeneticsAutosomal dominant · GABRA1 (chr 5)

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: Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, and Global developmental delay and others; and common findings: Status epilepticus, Generalized non-motor (absence) seizure, Atonic seizure, and Myoclonic seizure and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GABRA1 encodes gamma-aminobutyric acid type A receptor subunit alpha1 (456 aa). Alpha subunit of the heteropentameric ligand-gated chloride channel gated by Gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain. Highest expression in Brain Cerebellar Hemisphere (82.7 TPM) and Brain Frontal Cortex BA9 (58.5 TPM).

Developmental and epileptic encephalopathy, 19 is associated with mutations in the GABRA1 gene on chromosome 5.

The GABRA1 protein participates in GABRA1 heteropentamers:GABA, GABRA1 heteropentamers, and MECP2 regulates transcription of genes involved in GABA signaling pathways.

GABRA1 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 1.6.

Diagnosis

Genetic testing for GABRA1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 5 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615744

GARD

Genetic and Rare Diseases Info Center

GARD:16008

Questions for Your Care Team

→Should I pursue genetic testing for GABRA1, 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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developmental and epileptic encephalopathy, 19

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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