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

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.

Journal of human genetics - 1 Aug 2016

Conroy Judith, Allen Nicholas M, Gorman Kathleen, O'Halloran Eoghan, Shahwan Amre, Lynch Bryan, Lynch Sally A, Ennis Sean, King Mary D

Abstract excerpt

SLC1A4 deficiency is a recently described neurodevelopmental disorder associated with microcephaly, global developmental delay, abnormal myelination, thin corpus callosum and seizures. It has been mainly reported in the Ashkenazi-Jewish population with affected individuals homozygous for the p.Glu256Lys variant. Exome sequencing performed in an Irish proband identified a novel homozygous nonsense SLC1A4 variant...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroencephalography

Share to High-Throughput Nucleotide Sequencing

Share to Magnetic Resonance Imaging

Share to Spasms, Infantile

Share to White People

Source

Identifiers

PMID: 27193218
DOI: 10.1038/jhg.2016.44

Variants

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

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.PMID 27193218Read ↗

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

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.Semantic proximity Read ↗

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.Semantic proximity Read ↗

Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.Semantic proximity Read ↗

A novel SCN8A variant of unknown significance in pediatric epilepsy: a case report.Semantic proximity Read ↗

A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation.Semantic proximity Read ↗

Expanding the Phenotypic Spectrum of SLC1A4-Related Spastic Tetraplegia: A Case With Novel Multisystem Features.Semantic proximity Read ↗

The genetic landscape of infantile spasms.Semantic proximity Read ↗

SMC1A epilepsy syndrome: clinical data from a large international cohort.Semantic proximity Read ↗

Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report.Semantic proximity Read ↗

SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy.Semantic proximity Read ↗

De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype.Semantic proximity Read ↗

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