Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

@article{Johannesen2016PhenotypicSO,
  title={Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.},
  author={Katrine M Johannesen and Carla Marini and Siona Pfeffer and Rikke S M{\o}ller and Thomas Dorn and Cristina Elena Niturad and Elena Gardella and Yvonne W Weber and Marianne S{\o}nderg{\aa}rd and Helle Hjalgrim and Mariana Nikanorova and Felicitas Becker and Line H. G. Larsen and Hans A. Dahl and Oliver Maier and Davide Mei and Saskia Biskup and Karl Martin Klein and P S Reif and Felix Rosenow and Abdallah F Elias and Cindy Hudson and Katherine L. Helbig and Susanne Schubert-Bast and Maria Rosaria Scordo and Dana Craiu and Tania Dj{\'e}mi{\'e} and Dorota Hoffman-Zacharska and Hande Çağlayan and Ingo Helbig and Jos{\'e} Mar{\'i}a Serratosa and Pasquale Striano and Peter De Jonghe and Sarah Weckhuysen and Arvid Suls and Kai Muru and Inga Talvik and Tiina Talvik and Hiltrud Muhle and Ingo Borggraefe and Imma Rost and Renzo Guerrini and Holger Lerche and Johannes R Lemke and Guido Rubboli and Snezana Maljevic},
  journal={Neurology},
  year={2016},
  volume={87 11},
  pages={
          1140-51
        }
}
OBJECTIVE To delineate phenotypic heterogeneity, we describe the clinical features of a cohort of patients with GABRA1 gene mutations. METHODS Patients with GABRA1 mutations were ascertained through an international collaboration. Clinical, EEG, and genetic data were collected. Functional analysis of 4 selected mutations was performed using the Xenopus laevis oocyte expression system. RESULTS The study included 16 novel probands and 3 additional family members with a disease-causing… CONTINUE READING
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