ArticleClinical case reports2017
Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation.
Article in Clinical case reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 25 citations in OpenAlex.
- Impaired emotion recognition in Cntnap2-deficient mice is associated with hyper-synchronous prefrontal cortex neuronal activity.Molecular psychiatry · 2025Article
- Natural Course ofChildren (Basel, Switzerland) · 2023Article
- Reduction in seizure burden in a child with a A350V IQSEC2 mutation using heat therapy with a Jacuzzi.Clinical case reports · 2021Article
- Pharmacological modulation of AMPA receptors rescues specific impairments in social behavior associated with the A350V Iqsec2 mutation.Translational psychiatry · 2021Article
- Structural and functional brain-wide alterations in A350V Iqsec2 mutant mice displaying autistic-like behavior.Translational psychiatry · 2021Article
- Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.Journal of genetics · 2020Article
- An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.Frontiers in molecular neuroscience · 2019Article
- Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation.Clinical case reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The neurodevelopmental progression of a school-aged child with a spontaneous IQSEC2 mutation has demonstrated apparent regression of milestones and language. Seizures associated with the disorder have been refractory to medical treatment. Late treatment of autism in this child has led to improved social skills.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.