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autosomal dominant nocturnal frontal lobe epilepsy 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include sometimes findings: Intellectual disability. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Seizure, Focal-onset seizure, Intellectual disability

Age of onset: childhood.

GeneReviews

Clinical Guidance

Autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE) is characterized by clusters of nocturnal motor seizures with a range of manifestations.

Table 2.

Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy: Frequency of Select Features

Feature | % of Persons w/Feature | Comment

Sleep-related seizures | 100% | • Focal motor seizures w/vigorous hyperkinetic or asymmetric tonic/dystonic features1

May occur at any stage during sleep, but typically cluster in non-REM sleep
Some persons experience daytime seizures.

EEG abnormalities | • 10%-50% while awake1,2

50% during sleep1,2

| • Interictal epileptiform abnormalities over the frontal areas during sleep.

Ictal EEG may show evolving sharp- or spike-and-wave, rhythmic slow activity, or diffuse flattening.

Source: GeneReviews — "Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy"

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 autosomal dominant nocturnal frontal lobe epilepsy 1. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines regarding the management for autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with ADSHE, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy

System/Concern	Evaluation	Comment
Neurologic	Assessment by neurologist w/eval of suspected seizures as indicated	To incl EEG high-resolution brain MRI to evaluate for focal brain malformations, if suspected based on seizure semiology
Development	Assessment by developmental specialist	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education
Psychiatric	Assessment by psychiatrist	For any psychiatric comorbidities or complications
Genetic counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of ADSHE to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy Manifestation/Concern

Source: GeneReviews — "Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy"

Clinical Trials

View trials for autosomal dominant nocturnal frontal lobe epilepsy 1

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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. Recommended Surveillance for Individuals with Autosomal Dominant Sleep-related Hypermotor Epilepsy (ADSHE)

System/Concern	Evaluation	Frequency
Development	Monitor developmental progress educational needs.	If applicable Eval by developmental pediatrician or developmental specialist
Psychiatric	Eval by psychiatrist for any psychiatric comorbidities	If applicable
Family/Community	Assess family need for social work support (e.g., palliative/respite care, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).	At each visit

Source: GeneReviews — "Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy"

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autosomal dominant nocturnal frontal lobe epilepsy 1

Overview

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autosomal dominant nocturnal frontal lobe epilepsy 1

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team