Patient outcomes in KCNQ2 developmental and epileptic encephalopathy.
Grant Maclaine, Michele H Potashman, Deepshikha Pawar and 7 others
PMID 41527503WHAT IT FOUND
Seizures in KCNQ2 DEE often begin early and may resolve, but tone, cognition, movement, motor, feeding, communication, behaviour and sleep problems were reported more often as children age.
Key findings
01Seizures usually began in the first week of life, and 156 of 179 patients with reported age at resolution achieved seizure freedom by age 5 years.
02Non-seizure outcomes affected 289 of 338 individual-patient-data patients, with muscle tone, cognition, movement, gross motor, communication, eating and fine motor problems most common.
03Communication difficulties were reported for 30 of 64 patients aged 2 to 5 years, and autistic features or autism spectrum disorder were reported for 23 of 45 patients.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
Most included studies were case reports, case series or pooled-patient-data reports, and outcome tools varied, so the findings cannot be compared directly. Most pooled-patient-data studies did not describe patient characteristics. Most publications did not report the data collection period, and many studies were single-centre. Data were mostly cross-sectional and from children younger than 10 years, with few longitudinal data for older children. Most data came from patients aged 2 to 5 years, suggesting convenience sampling rather than a representative sample. Seizure type was not specified for 71 of 338 individual-patient-data patients, and reporting standards varied. Data on seizure recurrence were limited to 22 patients of variable ages.
Declared interests
Biohaven Pharmaceuticals, Inc. funded the review.
The easy way to misread this
Do not read this review as evidence that seizure control or resolution will improve development. It only collates reported outcomes from heterogeneous case reports, case series and pooled studies, and it does not test treatments.
Summarised by AI from the full paper, without a clinician reviewing it. Check it against the source before it changes what you do. Read it on PubMed →