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

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.

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

Lionel Anath C, Monfared Nasim, Scherer Stephen W, Marshall Christian R, Mercimek-Mahmutoglu Saadet

Abstract excerpt

We report a new patient with refractory epilepsy associated with a novel pathogenic homozygous MED23 variant. This 7.5-year-old boy from consanguineous parents had infantile onset global developmental delay and refractory epilepsy. He was treated with the ketogenic diet at 2.5 years of age and became seizure free on the first day. He had microcephaly and truncal hypotonia. His brain MRI showed delayed myelination...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Diet, Ketogenic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroencephalography

Share to Epilepsy

Share to Genetic Association Studies

Share to Magnetic Resonance Imaging

Share to Mediator Complex

Share to Treatment Outcome

Source

Identifiers

PMID: 27311965
DOI: 10.1002/ajmg.a.37802

Genes

MED23

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

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.PMID 27311965Read ↗

Ketogenic Diet Attenuates Refractory Epilepsy of Harel-Yoon Syndrome With ATAD3A Variants: A Case Report and Review of Literature.Semantic proximity Read ↗

Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance.Semantic proximity Read ↗

Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations: a single-center single-arm retrospective study.Semantic proximity Read ↗

Reversible high-fat ketogenic formula-induced hypertriglyceridemia in a child with NALCN mutation on a ketogenic diet: a case report.Semantic proximity Read ↗

Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisalSemantic proximity Read ↗

GLUT1 deficiency syndrome--2007 update.Semantic proximity Read ↗

MED23 pathogenic variant: genomic-phenotypic analysis.Semantic proximity Read ↗

Improvement on BAF53B mutation caused developmental and epileptic encephalopathy with a ketogenic dietSemantic proximity Read ↗

Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic dietSemantic proximity Read ↗

Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy.Semantic proximity Read ↗

Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndromeSemantic proximity Read ↗

Clinical Aspects of Glucose Transporter Type 1 Deficiency: Information From a Global Registry.Semantic proximity Read ↗

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