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

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

Scientific reports - 16 Sept 2024

Nguyen Yen Thi My, Vu Bao-Quoc, Nguyen Duy-Khai, Quach Ngoc-Vinh, Bui Liem Thanh, Hong Jeonghan, Bui Chi-Bao

Abstract excerpt

Neonatal intensive care unit (NICU), particularly in treating developmental and epileptic encephalopathy (DEE) and metabolic epilepsy (ME), requires a deep understanding of their complex etiologies and treatment responses. After excluding treatable cases such as infectious or autoimmune encephalitis, our focus shifted to a more challenging subgroup of 59 patients for in-depth genetic analysis using exome...

Read the complete abstract on PubMed

Topics

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

Share to Anticonvulsants
Share to Diet, Ketogenic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Drug Resistance

Share to Drug Resistant Epilepsy

Share to Epilepsy

Share to Exome Sequencing

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to NAV1.2 Voltage-Gated Sodium Channel

Source

Open in PubMed Open full text

Identifiers

PMID: 39285222
DOI: 10.1038/s41598-024-72683-7
PMCID: PMC11405402

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance.PMID 39285222Read ↗

Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation.Semantic proximity Read ↗

The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic EncephalopathySemantic proximity Read ↗

Neonatal/infantile‐onset genetic epilepsies: The utility of genetic testing for molecular etiology‐specific diagnosis concerning therapeutic implicationsSemantic proximity Read ↗

Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.Semantic proximity Read ↗

Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.Semantic proximity Read ↗

Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy.Semantic proximity Read ↗

Neurological Presentations in Pediatric Patients with Inborn Errors of Metabolism: A single-center studySemantic proximity Read ↗

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

Advances in genetic etiology, diagnosis and treatment of developmental and epileptic encephalopathy.Semantic proximity Read ↗

Metabolic Epilepsy.Semantic proximity Read ↗

Management of genetic epilepsies: From empirical treatment to precision medicine.Semantic proximity Read ↗

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Semantic proximity Read ↗

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