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

  title={Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.},
  author={Sarah Weckhuysen and Vanja Ivanovic and Rik Hendrickx and Rudy Noel Van Coster and Helle Hjalgrim and Rikke Steensbjerre M\oller and Sabine Gr\onborg and A. Schoonjans and Berten Ceulemans and Sin{\'e}ad B. Heavin and Christin Eltze and Rita Horvath and Gianluca Casara and Tiziana Pisano and Lucio Giordano and Kevin Rost{\'a}sy and Edda D Haberlandt and Beate Albrecht and Andrea Bevot and Ira Benkel and Steffan Syrbe and Beth Rosen Sheidley and Renzo Guerrini and Annapurna Poduri and Johannes R Lemke and Simone Mandelstam and Ingrid E. Scheffer and Marco Angriman and Pasquale Striano and Carla Marini and Arvid Suls and Peter de Jonghe},
  volume={81 19},
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 phenotyping was performed with particular attention to seizure frequency, cognitive… CONTINUE READING
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