PHENOTYPE · NEUROLOGY
The 61-person review assigns every person to one displayed state: positive only; positive plus an explicit negative or unresolved candidate; negative only; unresolved with no positive; or unreported. Formal-record status is shown separately as evidence strength.
EVENT PHENOTYPES SEEN IN THE GROUP
These categories can overlap within one person and were not uniformly characterized across all 61 people. They define the observed vocabulary; they are not type-specific prevalence estimates.
Direct vEEG material includes very brief generalized electroclinical seizures; other histories describe absence epilepsy, staring events, or absence-like spells.
A staring event is not counted as absence epilepsy without the supporting clinical and EEG context.Formal EMU material documents recurrent tonic–clonic activity in one deeply reviewed record; additional caregiver or report sources describe convulsive breakthroughs or convulsions.
Reported convulsion and electroclinical classification remain separate source levels.Records include nocturnal seizure history, events around awakening, sleep-associated discharge concern, and changes in burden with poor sleep or fatigue.
Parasomnias, airway events, arousal phenomena, and epileptic seizures require different capture.One formal EMU record contains multifocal as well as generalized epileptiform abnormalities; some histories use focal or mixed language.
Interictal distribution does not by itself classify every observed event.The source set contains reported newborn hospital seizures and suspected infant events, including episodes with reassuring or incomplete EEG information.
These remain history-incomplete unless the neonatal record and event–EEG relationship are available.Typical repetitive movements were captured without an electrographic seizure in one ambulatory study; another formal record includes a push-button symptom without EEG change. Shutdown-like, leg-crossing, and autonomic spells also remain in the differential.
A nonepileptic captured event does not prove that every event in that person is nonepileptic.STATE MATTERS
The longitudinal record preserves several time-linked contexts rather than treating seizure burden and seizure-like events as fixed traits.
Interpretive boundary: timing can guide event capture and study design; it does not establish one ASH1L-specific trigger mechanism.
SLEEP & STATE · CASE-LEVEL EXAMPLES
These de-identified examples retain broad molecular class, life stage, chronology, and evidence tier without publishing an exact variant. They show the range already visible in the source record; they are not frequency estimates and are not evidence that one molecular class predicts one sleep outcome.
A long-standing sleep-maintenance pattern was described: sleep begins but does not persist, with overnight pacing or stimming and reported function on about 2–3 hours of sleep. Parent-maintained logs also contain a temporary 7–9.5-hour recovery window and worsening around illness, constipation, stress, and medication changes.
Melatonin was reported unhelpful; magnesium was used nightly. Prior sleep, neurologic, ENT, iron/ferritin, and thyroid evaluations were described as inconclusive. This is a parent-observed trajectory, not proof that the missense finding is causal.The direct four-hour video-EEG report documented a reactive 6–7 Hz posterior dominant rhythm, mild diffuse background slowing, failure to enter Stage II, no epileptiform activity, and ECG rates of 100–200 bpm. Separate correspondence described more than two hours of behavioral sleep and no observed spindles or K-complexes.
The formal report and later correspondence are retained as different evidence layers. A limited daytime EEG that did not reach Stage II is not a polysomnogram and does not establish a global sleep-architecture disorder.The longitudinal history includes heavy sleep need, night waking, sleep talking or screaming, and recurrent fatigue followed by approximately three hours of daytime sleep.
This is a parent-observed course. The record does not yet separate circadian timing, sleep quality, seizure burden, medication, pain, and systemic fatigue with a contemporaneous formal study.Two direct polysomnograms from one de-identified record showed sleep stages and cycling, reassuring airway indices, and a periodic-limb-movement measure that was higher in the earlier study and lower on later testing.
The molecular context, exact ages, values, and unrelated multisystem history are intentionally not linked on this public page. Reassuring sleep architecture and airway indices answer defined study questions; they do not erase symptoms outside the recording.READ TOGETHER, NOT AS ONE SYMPTOM
For each person, align bedtime and wake time, total sleep, awakenings, movement, breathing, seizures or spells, medication, bowel or fuel state, daytime function, intervention, and recovery on the same timeline.
SEX × MOLECULAR ARCHITECTURE
The five person states are mutually exclusive. Formal-record is a separate evidence-strength flag and is not added to the row total.
Reading rule: positive only + positive with negative/unresolved + negative only + unresolved without positive + unreported = N in every row.
Sex-comparison boundary: ascertainment is much denser in female LoF records (13/15 mapped) than male LoF records (6/17 mapped). The available formal or report-backed subset is small and source-asymmetric, so it cannot support a reliable sex-prevalence comparison. The narrower direct-record primary comparison has no male denominator and is not estimable.
WHAT TO CAPTURE
Onset, awareness, motor pattern, gaze, color, breathing, duration, recovery, clustering, and reliable video when safe.
Background organization, posterior dominant rhythm, sleep stages, interictal pattern, activation procedures, and whether the typical event was captured.
Sleep and airway state, ECG or rhythm correlation, oxygenation, orthostatic context, medication timing, illness, pain, and metabolic or fuel state when indicated.
Return to baseline, post-event sleep or weakness, change after treatment, and whether the same event recurs under the same conditions.
EXPERIMENTAL CONTEXT
Region-specific Ash1l reduction in mouse prefrontal cortex altered chromatin and synaptic programs and produced seizure phenotypes. It supports a testable neural mechanism; it does not classify a human event or predict seizure type.