Patrick Cossette

Best Publications

• Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

  Patrick Cossette;Lidong Liu;Katéri Brisebois;Haiheng Dong;Haiheng Dong

  792
  Citations

• Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

  Bassel Abou-Khalil;Pauls Auce;Andreja Avbersek;Melanie Bahlo

  470
  Citations

• High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

  Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  466
  Citations

• Mutations in DEPDC5 cause familial focal epilepsy with variable foci

  Leanne M Dibbens;Boukje de Vries;Simona Donatello;Sarah E Heron

  401
  Citations

• Novel de novo SHANK3 mutation in autistic patients.

  Julie Gauthier;Dan Spiegelman;Amélie Piton;Ronald G. Lafrenière

  381
  Citations

• Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

  Piton A;Gauthier J;Hamdan Ff;Lafrenière Rg

  363
  Citations

• Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations

  Stéphanie Baulac;Saeko Ishida;Elise Marsan;Catherine Miquel

  305
  Citations

• Revisiting the role of the insula in refractory partial epilepsy.

  Dang Khoa Nguyen;Dong Bach Nguyen;Ramez Malak;Jean-Maxime Leroux

  290
  Citations

• SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

  Anna Fassio;Lysanne Patry;Sonia Congia;Franco Onofri

  259
  Citations

• A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

  Snezana Maljevic;Klaus Krampfl;Joana Cobilanschi;Nikola Tilgen

  259
  Citations

• Mutations in the calcium-related gene IL1RAPL1 are associated with autism

  Amélie Piton;Jacques L. Michaud;Huashan Peng;Swaroop Aradhya

  225
  Citations

• Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

  Andrew S Allen;Susannah T Bellows;Samuel F Berkovic;Joshua Bridgers

  217
  Citations

• Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

  Nancy D. Merner;Simon L. Girard;Hélène Catoire;Cynthia V. Bourassa

  214
  Citations

• The genetic landscape of infantile spasms

  Jacques L. Michaud;Mathieu Lachance;Fadi F. Hamdan;Lionel Carmant

  210
  Citations

• Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

  Kristopher T Kahle;Nancy D Merner;Perrine Friedel;Liliya Silayeva

  195
  Citations

• Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.

  Alexandre Montpetit;Stéphanie Côté;Edna Brustein;Christian A. Drouin

  194
  Citations

• Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

  Todor Arsov;Katherine R Smith;John Anthony Damiano;Silvana Franceschetti

  186
  Citations

• Consensus on diagnosis and management of JME: From founder's observations to current trends.

  Dorothée G.A. Kasteleijn Nolst Trenité;Bettina Schmitz;Bettina Schmitz;Dieter Janz;Dieter Janz;Antonio V. Delgado-Escueta;Antonio V. Delgado-Escueta

  185
  Citations

• Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

  Katherine R. Smith;Hans Henrik M Dahl;Laura Canafoglia;Eva Andermann

  158
  Citations

• Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

  Maxime Cadieux-Dion;Maude Turcotte-Gauthier;Anne Noreau;Caroline Martin

  156
  Citations