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KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response
| Content Provider | Semantic Scholar |
|---|---|
| Author | Numis, Adam L. Angriman, Marco Sullivan, Joseph E. Lewis, Ann J. Striano, Pasquale Nabbout, Rima Cilio, Maria Roberta |
| Copyright Year | 2014 |
| Abstract | Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with severe neonatal-onset epilepsy with intractable seizures and severe psychomotor impairment, termed KCNQ2 encephalopathy.(3,4) This is a rare condition and all patients reported so far were diagnosed well after the neonatal period.(3,4) We report on 3 new cases of KCNQ2 encephalopathy diagnosed in the neonatal period and studied with continuous video-EEG recording. We describe a distinct electroclinical phenotype and report on efficacy of antiepileptic drug (AED) therapies. |
| File Format | PDF HTM / HTML |
| DOI | 10.1212/WNL.0000000000000060 |
| PubMed reference number | 24371303 |
| Journal | Medline |
| Volume Number | 82 |
| Alternate Webpage(s) | http://pubmedcentralcanada.ca/pmcc/articles/PMC3929196/pdf/NEUROLOGY2013528323.pdf |
| Alternate Webpage(s) | https://doi.org/10.1212/WNL.0000000000000060 |
| Journal | Neurology |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
