Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptáček LJ - Cell reports - Jan 2012
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Refuting the challenges of the developmental shift of polarity of GABA actions: GABA more exciting than ever!
Ben-Ari Y, Woodin MA, Sernagor E, Cancedda L, Vinay L, Rivera C, Legendre P, Luhmann HJ, Bordey A, Wenner P, Fukuda A, van den Pol AN, Gaiarsa JL, Cherubini E - Frontiers in cellular neuroscience - Jan 2012
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Uncoupling of the endocannabinoid signalling complex in a mouse model of fragile X syndrome.
Jung KM, Sepers M, Henstridge CM, Lassalle O, Neuhofer D, Martin H, Ginger M, Frick A, DiPatrizio NV, Mackie K, Katona I, Piomelli D, Manzoni OJ - Nature communications - Jan 2012
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A randomised controlled trial of bumetanide in the treatment of autism in children.
Lemonnier E, Degrez C, Phelep M, Tyzio R, Josse F, Grandgeorge M, Hadjikhani N, Ben-Ari Y - Translational psychiatry - Jan 2012
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Neuroanatomical, sensorimotor and cognitive deficits in adult rats with white matter injury following prenatal ischemia.
Delcour M, Olivier P, Chambon C, Pansiot J, Russier M, Liberge M, Xin D, Gestreau C, Alescio-Lautier B, Gressens P, Verney C, Barbe MF, Baud O, Coq JO - Brain pathology (Zurich, Switzerland) - Jan 2012
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Functional consequences of necdin nucleocytoplasmic localization.
Lavi-Itzkovitz A, Tcherpakov M, Levy Z, Itzkovitz S, Muscatelli F, Fainzilber M - PloS one - Jan 2012
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Hook2 is involved in the morphogenesis of the primary cilium.
Baron Gaillard CL, Pallesi-Pocachard E, Massey-Harroche D, Richard F, Arsanto JP, Chauvin JP, Lecine P, Krämer H, Borg JP, Le Bivic A - Molecular biology of the cell - Dec 2011
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Fibronectin type III-like domains of neurofascin-186 protein mediate gliomedin binding and its clustering at the developing nodes of Ranvier.
Labasque M, Devaux JJ, Lévêque C, Faivre-Sarrailh C - The Journal of biological chemistry - Dec 2011
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