World's Best Scientists 2026 revealed!

D-Index & Metrics

Neuroscience

D-Index
47
Citations
9370
World Ranking
6393
National Ranking
375

Best Publications

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

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

  • 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

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

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

  • Mutations in DEPDC5 cause familial focal epilepsy with variable foci

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

  • Novel de novo SHANK3 mutation in autistic patients.

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

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

    Piton A;Gauthier J;Hamdan Ff;Lafrenière Rg

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

    Stéphanie Baulac;Saeko Ishida;Elise Marsan;Catherine Miquel

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

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

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

    Anna Fassio;Lysanne Patry;Sonia Congia;Franco Onofri

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

    Snezana Maljevic;Klaus Krampfl;Joana Cobilanschi;Nikola Tilgen

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

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

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

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

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

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

  • The genetic landscape of infantile spasms

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

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

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

  • 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

  • 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

  • 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

  • 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

  • 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

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