The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

doi:10.1111/epi.13560

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

Epilepsia - 1 Nov 2016

Zerem Ayelet, Haginoya Kazuhiro, Lev Dorit, Blumkin Lubov, Kivity Sara, Linder Ilan, Shoubridge Cheryl, Palmer Elizabeth Emma, Field Michael, Boyle Jackie, Chitayat David, Gaillard William D, Kossoff Eric H, Willems Marjolaine, Geneviève David, Tran-Mau-Them Frederic, Epstein Orna, Heyman Eli, Dugan Sarah, Masurel-Paulet Alice, Piton Ame'lie, Kleefstra Tjitske, Pfundt Rolph, Sato Ryo, Tzschach Andreas, Matsumoto Naomichi, Saitsu Hirotomo, Leshinsky-Silver Esther, Lerman-Sagie Tally

Abstract excerpt

OBJECTIVE: IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. METHODS: Forty-eight patients with IQSEC2 variants were identified worldwide through Medline search. Two patients were recruited from our early onset epileptic encephalopathy cohort and one patient from personal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Cohort Studies

Share to Electroencephalography

Share to Epilepsy

Share to Genetic Association Studies

Share to Guanine Nucleotide Exchange Factors

Share to Magnetic Resonance Imaging

Source

Open in PubMed

Identifiers

PMID: 27665735
DOI: 10.1111/epi.13560

Genes

IQSEC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The molecular and phenotypic spectrum of IQSEC2-related epilepsy.PMID 27665735Read ↗

[Genotypes and phenotypes of IQSEC2 gene variants related epilepsy].Semantic proximity Read ↗

Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.Semantic proximity Read ↗

Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.Semantic proximity Read ↗

Population-specific variant spectrum and epilepsy outcomes in IQSEC2-related neurodevelopmental disorder: a Chinese pediatric cohortSemantic proximity Read ↗

Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.Semantic proximity Read ↗

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.Semantic proximity Read ↗

IQSEC2 and X-linked syndromal intellectual disability.Semantic proximity Read ↗

Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision MedicineSemantic proximity Read ↗

Clinical and Genetic Profile of Autism Spectrum Disorder-Epilepsy (ASD-E) Phenotype: Two Sides of the Same Coin!Semantic proximity Read ↗

Molecular Insights into IQSEC2 Disease.Semantic proximity Read ↗

PIGN encephalopathy: Characterizing the epileptology.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.