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genetic developmental and epileptic encephalopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

genetic developmental and epileptic encephalopathy

MONDO:0100062

Also known as:developmental and epileptic encephalopathyhereditary developmental and epileptic encephalopathy

Overview

A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.

OnsetCHILDHOOD, ANTENATAL, NEONATAL, CONGENITAL, INFANTILE, JUVENILE

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, before birth, newborn period, at birth, infancy, adolescence.

GeneReviews

Clinical Guidance

To date, 83 individuals have been identified with a pathogenic variant in HNRNPU [, , , , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Select Features of HNRNPU-Related Neurodevelopmental Disorder

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

No consensus clinical diagnostic criteria for HNRNPU-related neurodevelopmental disorder (HNRNPU-NDD) have been published.

Suggestive Findings

HNRNPU-NDD should be considered in individuals with the following clinical and brain MRI findings. Clinical findings (presenting in infancy or childhood). Moderate-to-severe developmental delay (DD) or intellectual disability (ID) AND any of the following:

Generalized hypotonia of infancy

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 genetic developmental and epileptic encephalopathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for HNRNPU-related neurodevelopmental disorder (HNRNPU-NDD) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with HNRNPU-NDD, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with HNRNPU-Related Neurodevelopmental Disorder

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 5.

Recommended Surveillance for Individuals with HNRNPU-Related Neurodevelopmental Disorder

System/Concern | Evaluation | Frequency

Growth/Feeding

| • Measurement of growth parameters

Eval of nutritional status safety of oral intake

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 genetic developmental and epileptic encephalopathy.

281 publications have been identified in PubMed for genetic developmental and epileptic encephalopathy. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Research summaries	74	33%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 10:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

GARD

Genetic and Rare Diseases Info Center

GARD:9255

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?

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Feature	% of Personsw/Feature	Comment
Developmental delay	100%	—
Dysmorphic craniofacial features	97%	See Dysmorphic features following this table.
Seizure disorder	95%	~90% have 1st seizure before age 24 mos (tonic-clonic in ~60%, absence in ~44%)1
Intellectual disability	84%	Typically moderate to severe
Speech delay	80%	Usually limited or no speech
Hypotonia	79%	Slightly fewer than 50% have congenital hypotonia.
Feeding difficulties	57%	Some require supplemental nasogastric feeding or percutaneous gastrostomy.
Behavioral issues	50%	Autistic features are observed in ~33% of affected persons.
Eye anomalies	36%	The most common finding is strabismus.
Cardiac abnormalities	30%	Septal defects are the most common.
Renal anomalies	10%	—
Hyperventilation apnea	Rare	1. Developmental delay (DD) and intellectual disability (ID), typically affecting all developmental domains and falling into the moderate-to-severe range, have been found in all reported individuals to date.

System/Concern	Evaluation	Comment
Constitutional	Measurement of growth parameters	To incl weight, length/height, head circumference
Neurologic	Neurologic eval	To incl brain MRI if unresolved/refractory seizures are present; Consider EEG if seizures are a concern.
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech/language eval; Eval for early intervention / special education Psychiatric/
Behavioral	Neuropsychiatric eval	For persons age 12 mos: screening for behavior concerns incl sleep disturbances, ADD, aggressive or destructive behaviors, /or traits suggestive of ASD Gastrointestinal/
Feeding	Gastroenterology/ nutrition/ feeding team eval	To incl eval of feeding ability nutritional status; Consider eval for swallowing dysfunction gastric tube placement in those w/dysphagia or continued poor growth on oral feedings alone.1
Cardiovascular	Echocardiogram	To assess valvular problems anatomic heart defects Respiratory/
Sleep	Evaluate for signs symptoms of sleep apnea	Consider polysomnogram if concerns about sleep disturbance or apnea.
Eyes	Ophthalmologic eval	To assess for strabismus
Hearing	Audiologic eval	To assess for hearing loss
Genitourinary	Physical exam for undescended testes in males	Consider referral to urologist, if present. Consider renal ultrasound to assess for renal anomalies.
Musculoskeletal	Orthopedics/ physical medicine rehab/ PT OT eval	To incl assessment of:; Gross motor fine motor skills; Mobility, ADL, need for adaptive devices; Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills) Genetic
counseling	By genetics professionals2	To inform affected persons their families re nature, MOI, implications of HNRNPU-NDD to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with HNRNPU-Related Neurodevelopmental Disorder Manifestation/Concern	Treatment	Considerations/Other Hypotonia/
Hypertonia	Orthopedics / physical medicine rehab/ PT OT incl exercises to address muscle tone issues	Consider need for positioning mobility devices, disability parking placard. Consider involving appropriate specialists to aid in mgmt of baclofen, tizanidine, Botox®, or orthopedic procedures.
Epilepsy	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; sodium valproate is the most commonly used effective medication.1; Ketogenic diet newer ASMs may be required for refractory seizures.; Education of parents/caregivers2 DD/ID / Behavioral
issues	See .	Poor weight gain/ Failure
to thrive	Feeding therapy; nasogastric or gastrostomy tube placement may be required for persistent feeding issues.	Low threshold for clinical feeding eval /or radiographic swallowing study if clinical signs or symptoms of dysphagia Congenital
heart defects	Standard treatment per cardiologist	—
Sleep apnea	In conjunction w/sleep specialist, appropriate treatment options may incl supplemental oxygen, CPAP, or BiPAP.	It is important to consider additional factors that may contribute to sleep apnea, incl opioids ASM. Hyperventilation/ Abnormal breathing
patterns	Standard treatment per pulmonologist	Combined treatment w/acetazolamide, alprazolam, aripiprazole successfully used in 1 person.3
Strabismus	Standard treatment(s) per ophthalmologist	Hearing loss

Kisho

genetic developmental and epileptic encephalopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Growth/Feeding

Research Landscape

Medical References

External Resources

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Gastrointestinal

Neurologic

Development

Behavioral

Respiratory

Musculoskeletal

Community

Hearing

Recent Publications

genetic developmental and epileptic encephalopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Growth/Feeding

Research Landscape

Medical References

External Resources

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Gastrointestinal

Neurologic

Development

Behavioral

Respiratory

Musculoskeletal

Community

Hearing

Recent Publications