Journal article
Ring Chromosome 20: A Pediatric Potassium Channelopathy Responsive to Treatment with Ezogabine
Pediatric neurology, v 49(5), pp 368-369
01 Nov 2013
PMID: 23916860
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
BACKGROUND: Ring chromosome 20 is a genetic disorder characterized by intractable epilepsy, behavioral problems, and cognitive deficit. The potassium channel coding gene KCNQ2 is localized at the locus q13.3 on the chromosome 20, the most common site where the ring occurs. Ezogabine is the first potassium channel opener marketed in the United States. PATIENTS: We describe an 8-year-old girl with mosaic ring chromosome 20 and refractory epilepsy who had a remarkable improvement in seizure control with ezogabine. CONCLUSIONS: This is the first report using the new antiepileptic drug ezogabine to treat pediatric epilepsy. We hypothesize that ring chromosome 20 patients have epilepsy related to abnormalities in the potassium channels, making it susceptible for treatment with potassium channel openers.
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Details
- Title
- Ring Chromosome 20: A Pediatric Potassium Channelopathy Responsive to Treatment with Ezogabine
- Creators
- Diana J. Walleigh - Drexel Univ, St Christophers Hosp Children, Dept Pediat, Sect Neurol,Coll Med, Philadelphia, PA 19104 USAAgustin Legido - Drexel Univ, St Christophers Hosp Children, Dept Pediat, Sect Neurol,Coll Med, Philadelphia, PA 19104 USAIgnacio Valencia - Drexel University
- Publication Details
- Pediatric neurology, v 49(5), pp 368-369
- Publisher
- Elsevier
- Number of pages
- 2
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000326212200016
- Scopus ID
- 2-s2.0-84886695247
- Other Identifier
- 991019168746504721
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InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Web of Science research areas
- Clinical Neurology
- Pediatrics