encephalopathy

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency
Christopher Benjamin Jackson, Jean-Marc Nuoffer, Dagmar Hahn, Holger Prokisch, Birgit Haberberger, Matthias Gautschi, Annemarie Häberli, Sabina Gallati, André Schaller

Journal of Medical Genetics Mar 2014, 51 (3) 170-175; DOI: 10.1136/jmedgenet-2013-101932
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy
Anas M Alazami, Hadia Hijazi, Amal Y Kentab, Fowzan S Alkuraya

Journal of Medical Genetics Apr 2014, 51 (4) 224-228; DOI: 10.1136/jmedgenet-2013-102030
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria
José-Mario Capo-Chichi, Sarah Boissel, Edna Brustein, Sarah Pickles, Catherine Fallet-Bianco, Christina Nassif, Lysanne Patry, Sylvia Dobrzeniecka, Meijiang Liao, Damian Labuda, Mark E Samuels, Fadi F Hamdan, Christine Vande Velde, Guy A Rouleau, Pierre Drapeau, Jacques L Michaud

Journal of Medical Genetics May 2015, 52 (5) 303-311; DOI: 10.1136/jmedgenet-2014-102952
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
Maxime G Blanchard, Marjolein H Willemsen, Jaclyn B Walker, Sulayman D Dib-Hajj, Stephen G Waxman, Marjolijn CJ Jongmans, Tjitske Kleefstra, Bart P van de Warrenburg, Peter Praamstra, Joost Nicolai, Helger G Yntema, René JM Bindels, Miriam H Meisler, Erik-Jan Kamsteeg

Journal of Medical Genetics May 2015, 52 (5) 330-337; DOI: 10.1136/jmedgenet-2014-102813

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encephalopathy