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ASH1LClinical & Research Hub

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About

Purpose, community, methods, and family perspective.

Purpose & teamWhy the site exists and who leads it.Who is representedAge, sex, countries, molecular findings, and limits.Methods & privacyEvidence labels, count rules, and privacy.What families are seeingA first-person view of patterns families are seeing.

Clinical

Clinical guidance, changes over time, searchable areas, and family-approved profiles.

Clinical guideChoose the chapter that matches the current clinical question.Development & memorySeparate ability, access, state, and documented loss.Natural history & recoveryTrack baseline, context, change, measurement, action, and recovery.Clinical atlasSearch across 15 areas of health, development, and daily function.Case profilesRead family-approved, de-identified longitudinal histories.

Biology

Gene, protein, variants, cells, tissues, and mechanism.

Gene & biologyDosage, protein structure, chromatin, and models.Variant landscapeMolecular classes, recurrence, and interpretation limits.Tissue & cell biologyExpression, experiments, cell states, and open questions.

Research

Priorities, researcher conversations, evidence, and collaboration.

Research prioritiesTestable questions, measurements, and study priorities.Research conversationsWritten responses from ASH1L researchers.Evidence libraryScientific sources organized by question and evidence type.

Resources

First steps, practical tools, clinician guidance, and definitions.

Newly diagnosedUnderstand the result and choose first steps.Tools & downloadsPDF guides, fillable worksheets, and public data.Clinician orientationEvidence and first-encounter priorities.Plain-language glossaryDefinitions of recurring ASH1L terms.

About

About

Purpose, community, methods, and family perspective.

Purpose & teamWhy the site exists and who leads it.Who is representedAge, sex, countries, molecular findings, and limits.Methods & privacyEvidence labels, count rules, and privacy.What families are seeingA first-person view of patterns families are seeing.

Clinical

Clinical

Clinical guidance, changes over time, searchable areas, and family-approved profiles.

Clinical guideChoose the chapter that matches the current clinical question.Development & memorySeparate ability, access, state, and documented loss.Natural history & recoveryTrack baseline, context, change, measurement, action, and recovery.Clinical atlasSearch across 15 areas of health, development, and daily function.Case profilesRead family-approved, de-identified longitudinal histories.

Biology

Biology

Gene, protein, variants, cells, tissues, and mechanism.

Gene & biologyDosage, protein structure, chromatin, and models.Variant landscapeMolecular classes, recurrence, and interpretation limits.Tissue & cell biologyExpression, experiments, cell states, and open questions.

Research

Research

Priorities, researcher conversations, evidence, and collaboration.

Research prioritiesTestable questions, measurements, and study priorities.Research conversationsWritten responses from ASH1L researchers.Evidence libraryScientific sources organized by question and evidence type.

Resources

Resources

First steps, practical tools, clinician guidance, and definitions.

Newly diagnosedUnderstand the result and choose first steps.Tools & downloadsPDF guides, fillable worksheets, and public data.Clinician orientationEvidence and first-encounter priorities.Plain-language glossaryDefinitions of recurring ASH1L terms.

Search ConnectFamilies · Clinical · Research

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All public content25 Overview pages3 Clinical chapters3 Published case profiles16 Atlas areas3 Evidence0 Tools0 Glossary terms0

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16 results for “staring” in Published case profiles within Clinical · showing 1–15

Case profileClinical · Clinical · Case profiles

NM_018489.2:c.3838C>T — Ages 11–15 ASH1L case profile

Best match: Staring events, regression, and the epilepsy diagnosis

Staring spells and regression at school led the family to seek neurologic evaluation.

Open result Case profileClinical · Clinical · Case profiles

NM_018489.3:c.1885_1888delinsTAA — Ages 6–10 ASH1L case profile

Best match: Seizures, spells, and neurologic history

Her mother has not observed staring or disconnection, freezing, unusual eye movements, fainting, tremor, unexplained falls, or episodes that were difficult to interrupt.

Open result Case profileClinical · Clinical · Case profiles

NM_001366177.2:c.5756G>A — Ages 11–15 ASH1L case profile

Best match: Seizures, neurologic testing, and current sleep

His mother reports that he has never had seizures and has not described staring spells or other episodic events.

Open result Case profileClinical · Clinical · Case profiles

NM_018489.3:c.6436C>T — Ages 1–5 ASH1L case profile

Best match: Shutdown or freezing episodes

At other times, her family has observed fixed staring with her head held to one side.

Open result Case profileClinical · Clinical · Case profiles

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NM_018489.3:c.3838C>T — Ages 21–25 ASH1L case profile

Best match: Tics, freezing episodes, and seizure status

In a caregiver questionnaire, her family also reported staring or brief confusion, sudden pauses or blank moments, and variable awareness.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.2:c.7357T>C — Ages 16–20 ASH1L case profile

Best match: Thyroid antibodies and weight change

T3 and T4 remained within their reported normal ranges, and thyroid treatment was not started at that time.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.2:c.1043C>G — Ages 6–10 ASH1L case profile

Best match: December 2020 neurology referral

It does not show that a vagus-nerve stimulator was implanted or that a ketogenic diet was started.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.3:c.1892_1893del — Ages 16–20 ASH1L case profile

Best match: Clinical seizure history, EEGs, and an isolated fixed-stare event

During that illness she became motionless and stared fixedly.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.2:c.6729dup — Ages 21–25 ASH1L case profile

Best match: Sleep and daytime alertness

After aripiprazole was started, his father observed much greater daytime sleepiness, sluggishness, slower reactions, and an overall sedated effect.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.3:c.4039_4043del — Ages 6–10 ASH1L case profile

Best match: Attention and medication history

Her family had previously described the morning medication as having been started about five months before the August 2026 confirmation of her current doses.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.3:c.2550delT — Ages 26–30 ASH1L case profile

Best match: Feeding, digestion, and oral health

Since starting the plan, her mother reports that she feels much better: the abdominal bloating has resolved, and her bowel movements are regular without diarrhea or abdominal cramps.

Open result

Case profileClinical · Clinical · Case profiles

arr[GRCh38] 1q22(155454274_155539091)x1 — Ages 11–15 ASH1L case profile

Best match: Current picture and family priorities

At the latest endocrinology review, bone age was reportedly unchanged and remained delayed, with continued height monitoring and trials of iron and vitamin D recommended; starting either supplement is not confirmed.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.3:c.7927C>T — Ages 1–5 ASH1L case profile

Best match: Gastrointestinal and feeding history

Allergen exposure, illness, unfamiliar settings, and major routine changes such as starting preschool have each been associated with reduced intake and a recovery that may take about two weeks.

Open result

Case profileClinical · Clinical · Case profiles

ENST00000392403:c.2845delG — Ages 21–25 ASH1L case profile

Best match: Birth, development, and learning

The physician report says valproate was started after the absences appeared and that her first generalized tonic-clonic seizure occurred about two months later.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.2:c.5138_5139del — Ages 6–10 ASH1L case profile

Best match: Speech, language, pragmatics, and executive access

Executive-function demands—planning, starting, sequencing, holding several steps in mind, and following through—can further restrict access to skills she possesses.

Open result