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

SLC6A1 G443D associated with developmental delay and epilepsy.

Cold Spring Harbor molecular case studies - 1 Aug 2020

Devries Seth, Mulder Monica, Charron Jacob G, Prokop Jeremy W, Mark Paul R

Abstract excerpt

SLC6A1 is associated with an autosomal dominant early-onset seizure and epileptic encephalopathy associated with intellectual disability. We present a 2-yr-old girl with developmental delay and epilepsy, using a new computational filtering impact score to show the patient's variant ranks with other pathogenic variants. Genomic studies within the patient revealed a G443D variant of uncertain significance....

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Developmental Disabilities
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GABA Plasma Membrane Transport Proteins

Share to Intellectual Disability

Share to Loss of Function Mutation

Share to Seizures

Share to Valproic Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 32660967
DOI: 10.1101/mcs.a005371
PMCID: PMC7476406

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SLC6A1 G443D associated with developmental delay and epilepsy.PMID 32660967Read ↗

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.Semantic proximity Read ↗

[Analysis of a child with developmental disorder and epilepsy due to a homozygous variant of SLC25A12 gene].Semantic proximity Read ↗

Expanding the GEFS+ Spectrum: Functional Characterization Of A SCN1B VariantSemantic proximity Read ↗

Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.Semantic proximity Read ↗

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.Semantic proximity Read ↗

Pathogenic mechanisms underlying SLC6A1 variant-mediated neurodevelopmental disorders.Semantic proximity Read ↗

ATP6V1A variants are associated with childhood epilepsy with favorable outcome.Semantic proximity Read ↗

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.Semantic proximity Read ↗

Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant.Semantic proximity Read ↗

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by <i>de novo</i> KCNC2 variantsSemantic proximity Read ↗

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.Semantic proximity Read ↗

SCAF4 variants are associated with epilepsy with neurodevelopmental disorders.Semantic proximity Read ↗

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