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KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response
| Content Provider | Scilit |
|---|---|
| Author | Numis, Adam L. Angriman, Marco Sullivan, Joseph E. Lewis, Ann J. Striano, Pasquale Nabbout, Rima Cilio, Maria R. |
| Copyright Year | 2013 |
| Description | Journal: Neurology 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. |
| Related Links | http://europepmc.org/articles/pmc3929196?pdf=render https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3929196/pdf https://n.neurology.org/content/neurology/82/4/368.full.pdf |
| Ending Page | 370 |
| Page Count | 3 |
| Starting Page | 368 |
| e-ISSN | 1526632X |
| DOI | 10.1212/wnl.0000000000000060 |
| Journal | Neurology |
| Issue Number | 4 |
| Volume Number | 82 |
| Language | English |
| Publisher | Ovid Technologies (Wolters Kluwer Health) |
| Publisher Date | 2014-01-28 |
| Access Restriction | Open |
| Subject Keyword | Journal: Neurology Clinical Neurology Kcnq2 Encephalopathy Electroclinical Phenotype Onset Epilepsies Neonatal Onset Rare Condition |
| Content Type | Text |
| Resource Type | Article |
