Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

OBJECTIVES: To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic encephalopathy (NEE), and to expand the phenotypic spectrum of KCNQ2 epileptic encephalopathy. METHODS: Eighty-four patients with unexplained NEE were screened for KCNQ2 mutations using classic Sanger seque...

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Xehetasun bibliografikoak
Egile Nagusiak: Weckhuysen, Sarah, Ivanovic, Vanja, Hendrickx, Rik, Van Coster, Rudy, Hjalgrim, Helle, Møller, Rikke S., Grønborg, Sabine, Schoonjans, An-Sofie, Ceulemans, Berten, Heavin, Sinead B., Eltze, Christin, Horvath, Rita, Casara, Gianluca, Pisano, Tiziana, Giordano, Lucio, Rostasy, Kevin, Haberlandt, Edda, Albrecht, Beate, Bevot, Andrea, Benkel, Ira, Syrbe, Steffan, Sheidley, Beth, Guerrini, Renzo, Poduri, Annapurna, Lemke, Johannes R., Mandelstam, Simone, Scheffer, Ingrid, Angriman, Marco, Striano, Pasquale, Marini, Carla, Suls, Arvid, De Jonghe, Peter
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Lippincott Williams & Wilkins 2013
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Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3812107/
https://ncbi.nlm.nih.gov/pubmed/24107868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000435296.72400.a1
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