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Article

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

Epilepsia - 1 Jul 2013

Veeramah Krishna R, Johnstone Laurel, Karafet Tatiana M, Wolf Daniel, Sprissler Ryan, Salogiannis John, Barth-Maron Asa, Greenberg Michael E, Stuhlmann Till, Weinert Stefanie, Jentsch Thomas J, Pazzi Marjorie, Restifo Linda L, Talwar Dinesh, Erickson Robert P, Hammer Michael F

Abstract excerpt

PURPOSE: The management of epilepsy in children is particularly challenging when seizures are resistant to antiepileptic medications, or undergo many changes in seizure type over time, or have comorbid cognitive, behavioral, or motor deficits. Despite efforts to classify such epilepsies based on...

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Source

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Identifiers

PMID: 23647072
DOI: 10.1111/epi.12201
PMCID: PMC3700577

Genes

ARHGEF15
CLCN4
KCNH5
CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23647072-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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