P
Pierre Szepetowski
Researcher at Aix-Marseille University
Publications - 86
Citations - 5196
Pierre Szepetowski is an academic researcher from Aix-Marseille University. The author has contributed to research in topics: Epilepsy & Paroxysmal dyskinesia. The author has an hindex of 34, co-authored 85 publications receiving 4775 citations. Previous affiliations of Pierre Szepetowski include French Institute of Health and Medical Research & INMED.
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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
Annachiara De Sandre-Giovannoli,Malika Chaouch,Serguei Kozlov,Jean Michel Vallat,Meriem Tazir,Nadia Kassouri,Pierre Szepetowski,Tarik Hammadouche,Antoon Vandenberghe,Colin L. Stewart,D. Grid,Nicolas Lévy +11 more
TL;DR: This report constitutes the first evidence of the recessive inheritance of a mutation that causes CMT2; additionally, it is suggested that mutations in LMNA may also be the cause of the genetically overlapping disorder CMT1B1.
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GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
Gaetan Lesca,Gabrielle Rudolf,Nadine Bruneau,Natalia Lozovaya,Audrey Labalme,Nadia Boutry-Kryza,Manal Salmi,Timur Tsintsadze,Laura Addis,Jacques Motte,Sukhvir Wright,Vera Tsintsadze,Vera Tsintsadze,Vera Tsintsadze,Anne Michel,Diane Doummar,Karine Lascelles,Lisa J. Strug,Patrick Waters,Julitta de Bellescize,Pascal Vrielynck,Anne de Saint Martin,Dorothée Ville,Philippe Ryvlin,Alexis Arzimanoglou,Edouard Hirsch,Angela Vincent,Deb K. Pal,Nail Burnashev,Damien Sanlaville,Pierre Szepetowski +30 more
TL;DR: It is demonstrated that about 20% of cases of LKS, CSWSS and electroclinically atypical rolandic epilepsy often associated with speech impairment can have a genetic origin sustained by de novo or inherited mutations in the GRIN2A gene (encoding the N-methyl-D-aspartate (NMDA) glutamate receptor α2 subunit, GluN2A).
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GRIN2A mutations cause epilepsy-aphasia spectrum disorders
Gemma L. Carvill,Brigid M. Regan,Simone C. Yendle,Brian J. O'Roak,Natalia Lozovaya,Nadine Bruneau,Nail Burnashev,Adiba Khan,Joseph Cook,Eileen Geraghty,Lynette G. Sadleir,Samantha J. Turner,Meng-Han Tsai,Richard Webster,Robert A. Ouvrier,John A. Damiano,Samuel F. Berkovic,Jay Shendure,Michael S. Hildebrand,Pierre Szepetowski,Ingrid E. Scheffer,Ingrid E. Scheffer,Heather C Mefford +22 more
TL;DR: The first monogenic cause, to the authors' knowledge, for EAS is reported and GRIN2A mutations are restricted to this group of cases, which has important ramifications for diagnostic testing and treatment and provides new insights into the pathogenesis of this debilitating group of conditions.
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Familial infantile convulsions and paroxysmal choreoathetosis : a new neurological syndrome linked to the pericentromeric region of human chromosome 16
Pierre Szepetowski,Jacques Rochette,Patrick Berquin,Charles Piussan,G. Mark Lathrop,Anthony P. Monaco +5 more
TL;DR: This study provides the first genetic evidence for a common basis of convulsive and choreoathetotic disorders and will help in the understanding and classification of paroxysmal neurological syndromes.
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SRPX2 mutations in disorders of language cortex and cognition
Patrice Roll,Gabrielle Rudolf,Sandrine Pereira,Barbara Royer,Ingrid E. Scheffer,Annick Massacrier,Maria-Paola Valenti,Nathalie Roeckel-Trevisiol,Sarah Jamali,Christophe Beclin,Caroline Seegmuller,Marie-Noëlle Metz-Lutz,Arnaud Lemainque,Marc Delepine,Christophe Caloustian,Anne de Saint Martin,Nadine Bruneau,Danièle Depétris,Marie-Genevieve Mattei,Elisabeth Flori,Andrée Robaglia-Schlupp,Nicolas Lévy,Bernd A. Neubauer,Rivka Ravid,Christian Marescaux,Samuel F. Berkovic,Edouard Hirsch,Mark Lathrop,Pierre Cau,Pierre Szepetowski +29 more
TL;DR: An important role for SRPX2 is suggested in the perisylvian region critical for language and cognitive development in the human adult brain, including the rolandic area.