Discover Community Create You

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

Article

SPTAN1-Results of a Caregiver Survey.

Journal of child and adolescent psychopharmacology - 1 Aug 2025

Wilson Michelle, Wong Francis

Abstract excerpt

Background: SPTAN1 variants are thought to affect the scaffolding that protects the axonal segment of neurons as well as neuronal synapses. The SPTAN1 gene is located in the 9q34.11 genomic region and encodes the cytoskeletal protein alpha II spectrin. Epilepsy, encephalopathy, and motor neuropathy are most commonly associated with SPTAN1 variants. Methods: An informed consent and questionnaire were developed in...

Read the complete abstract on PubMed

Topics

Humans
Male
Female
Caregivers
Child
Surveys and Questionnaires
Mutation
Adult

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child, Preschool

Adolescent

Middle Aged

Epilepsy

Source

Identifiers

PMID: 40261672
DOI: 10.1089/cap.2024.0100

Genes

SPTAN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SPTAN1-Results of a Caregiver Survey.PMID 40261672Read ↗

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.Semantic proximity Read ↗

SPTAN1 encephalopathy: distinct phenotypes and genotypes.Semantic proximity Read ↗

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.Semantic proximity Read ↗

Heterozygous variants in SPTBN1 cause intellectual disability and autism.Semantic proximity Read ↗

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic featuresSemantic proximity Read ↗

A Heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathySemantic proximity Read ↗

Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability.Semantic proximity Read ↗

Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy.Semantic proximity Read ↗

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.Semantic proximity Read ↗

Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.Semantic proximity Read ↗

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1.Semantic proximity Read ↗

Familial SYN1 Pathogenic Mutations Related Neurodevelopmental Disorders in Asian Pediatric PatientsSemantic proximity Read ↗

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