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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Lippincott Williams & Wilkins 2013
Aiheet:
Article
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia