Article
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
Neurology - 5 Nov 2013
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
Abstract excerpt
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 sequencing. Clinical data of 6 additional patients with KCNQ2 mutations detected by gene panel were collected. Detailed...
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