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

Co‐occurring malformations of cortical development and SCN 1A gene mutations

5 Jun 2014

Abstract excerpt

OBJECTIVE: To report on six patients with SCN1A mutations and malformations of cortical development (MCDs) and describe their clinical course, genetic findings, and electrographic, imaging, and neuropathologic features. METHODS: Through our database of epileptic encephalopathies, we identified 120 patients with SCN1A mutations, of which 4 had magnetic resonance imaging (MRI) evidence of MCDs. We collected two...

Read the complete abstract on PubMed

Topics

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

Share to Cerebrospinal fluid and hydrocephalus
Share to Epilepsy research and treatment
Share to Fetal and Pediatric Neurological Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24902755
DOI: 10.1111/epi.12658

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Co‐occurring malformations of cortical development and SCN 1A gene mutationsPMID 24902755Read ↗

[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].Semantic proximity Read ↗

Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.Semantic proximity Read ↗

Malformations of cortical development: clinical features and genetic causes.Semantic proximity Read ↗

Neurodevelopmental Disorders as a Cause of Seizures: Neuropathologic, Genetic, and Mechanistic ConsiderationsSemantic proximity Read ↗

Malformations of cortical development: Fetal imaging and geneticsSemantic proximity Read ↗

Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.Semantic proximity Read ↗

Epilepsy and malformations of cortical development: new developments.Semantic proximity Read ↗

[Advances of pathological research and classification in malformations of cortical development associated with refractory epilepsy].Semantic proximity Read ↗

Diagnostic work‐up in malformations of cortical developmentSemantic proximity Read ↗

Malformations of cortical development.Semantic proximity Read ↗

The phenotype of SCN8A developmental and epileptic encephalopathy.Semantic proximity Read ↗

Genotype‐phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgerySemantic proximity Read ↗

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