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childhood-onset epilepsy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

childhood-onset epilepsy syndrome

MONDO:0020072

Also known as:childhood epilepsy syndromeepilepsy syndrome of childhoodpaediatric epilepsy syndrome

Overview

A epilepsy syndrome that occurs during childhood.

OnsetCHILDHOOD, CONGENITAL

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.

No HPO annotations are available for this condition.

Age of onset: childhood, at birth.

GeneReviews

Clinical Guidance

The clinical spectrum of GRIN2A-related disorders is broad and includes developmental delay/ intellectual disability (DD/ID), epilepsy, speech and language disorders, movement disorders, and neuropsychiatric disorders. Cognitive function can be normal or show mild-to-profound impairment. The spectrum of epilepsy phenotypes ranges from self-limited epilepsy with centrotemporal spikes (SeLECTS) to developmental and/or epileptic encephalopathies (DEE/EE) with spike-wave activation in sleep (DEE/EE-SWAS) – including Landau-Kleffner syndrome (LKS) – to infantile-onset DEE. Speech and language disorders range from mild speech impairment to aphasia to nonverbal phenotypes. Movement disorders occur less frequently and include ataxia, dystonia, and chorea.

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.

GeneReviews

Diagnostic Criteria

Suggestive Findings

A GRIN2A-related disorder should be considered in a proband with the following suggestive clinical findings and family history.

Clinical findings

Source: GeneReviews — "GRIN2A-Related Disorders"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for childhood-onset epilepsy syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for GRIN2A-related disorders have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with GRIN2A-related disorders, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 7.

GRIN2A-Related Disorders: Recommended Surveillance

System/Concern | Evaluation | Frequency

Development

| Monitor developmental progress educational needs. | At each visit

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 childhood-onset epilepsy syndrome.

15 publications have been identified in PubMed for childhood-onset epilepsy syndrome. Research spans Basic Science / Preclinical (33%), Clinical Trial Publication (20%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Laboratory research	5	33%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:07 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98259

GARD

Genetic and Rare Diseases Info Center

GARD:19437

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

childhood-onset epilepsy syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Development

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Constitutional

Development

Epilepsy

Speech language disorders

Activities of daily living

Psychiatric

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Neurologic

Speech language disorders

Psychiatric

Activities of daily living

Family/Community

Recent Publications

childhood-onset epilepsy syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Development

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Constitutional

Development

Epilepsy

Speech language disorders

Activities of daily living

Psychiatric

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Neurologic

Speech language disorders

Psychiatric

Activities of daily living

Family/Community

Recent Publications