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

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

American journal of medical genetics. Part A - 1 Dec 2016

Smigiel Robert, Kostrzewa Grazyna, Kosinska Joanna, Pollak Agnieszka, Stawinski Piotr, Szmida Elzbieta, Bloch Michal, Szymanska Krystyna, Karpinski Pawel, Sasiadek Maria M, Ploski Rafal

Abstract excerpt

Epileptic encephalopathies (EE) include a range of severe epilepsies in which intractable seizures or severe sub-clinical epileptiform activity are accompanied by impairment of motor and cognitive functions. Mutations in several genes including ion channels and other genes whose function is not completely understood have been associated to some EE. In this report, we provide a detailed clinical description of a...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 4
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroencephalography

Share to Epilepsy

Share to Neuroimaging

Share to Physical Examination

Share to Receptors, N-Methyl-D-Aspartate

Share to RNA Splice Sites

Source

Identifiers

PMID: 27605359
DOI: 10.1002/ajmg.a.37887

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

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.PMID 27605359Read ↗

GRIN2A Variants Associated With Idiopathic Generalized EpilepsiesSemantic proximity Read ↗

GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.Semantic proximity Read ↗

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.Semantic proximity Read ↗

Epilepsy: GRIN2A mutations identified as key genetic drivers of epilepsy-aphasia spectrum disorders.Semantic proximity Read ↗

Investigation of GRIN2A in common epilepsy phenotypes.Semantic proximity Read ↗

GRIN2A mutations cause epilepsy-aphasia spectrum disorders.Semantic proximity Read ↗

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure.Semantic proximity Read ↗

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.Semantic proximity Read ↗

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.Semantic proximity Read ↗

Distinct roles of GRIN2A and GRIN2B variants in neurological conditionsSemantic proximity Read ↗

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.Semantic proximity Read ↗

Identification of novel causative genes of childhood epileptic encephalopathiesSemantic proximity Read ↗

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