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

Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data.

Epileptic disorders : international epilepsy journal with videotape - 1 Jun 2013

Serino Domenico, Specchio Nicola, Pontrelli Giuseppe, Vigevano Federico, Fusco Lucia

Abstract excerpt

We describe the EEG findings of an infant with early-onset epileptic encephalopathy with mutation of the KCNQ2 gene and a family history of neonatal seizures. The infant presented with multifocal drug-resistant seizures with onset during the third day of life. Family history was positive for early-onset neonatal seizures. Metabolic screening and neuroimaging were negative. Direct sequencing of KCQN2 from both the...

Read the complete abstract on PubMed

Topics

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

Share to Adrenocorticotropic Hormone
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Hormones

Share to Infant

Share to KCNQ2 Potassium Channel

Share to Mutation

Share to Video Recording

Source

Identifiers

PMID: 23774309
DOI: 10.1684/epd.2013.0578

Genes

KCNQ2

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

Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data.PMID 23774309Read ↗

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.Semantic proximity Read ↗

A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.Semantic proximity Read ↗

Adult phenotype of KCNQ2 encephalopathy.Semantic proximity Read ↗

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.Semantic proximity Read ↗

KCNQ2 Epileptic Encephalopathy in Early Infancy.Semantic proximity Read ↗

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.Semantic proximity Read ↗

A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations.Semantic proximity Read ↗

KCNQ2 encephalopathySemantic proximity Read ↗

Familial KCNQ2 mutation: a psychiatric perspective.Semantic proximity Read ↗

KCNQ2 encephalopathy: A case due to a de novo deletion.Semantic proximity Read ↗

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.Semantic proximity Read ↗

Cerebellar Hypoplasia and Treatment Course of a Two-Month-Old Infant With KCNQ2 Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature.Semantic proximity Read ↗

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