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Epilepsia|July 19, 2011
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patientsCyril Mignot, Marie-Laure Moutard, Oriane Trouillard, et al.Journal of Inherited Metabolic Disease|February 10, 2018
Targeted versus untargeted omics - the CAFSA storyMaria Del Mar Amador, Benoit Colsch, Foudil Lamari, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 26, 2021
SCN1A-related epilepsy with recessive inheritance: Two further familiesRaffaella Moretti, Lionel Arnaud, Delphine Bouteiller, et al.Annals of Physical and Rehabilitation Medicine|April 7, 2023
Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesisPauline Lallemant-Dudek, Livia Parodi, Giulia Coarelli, et al.European Journal of Human Genetics : EJHG|May 7, 2021
Evidence of mosaicism in SPAST variant carriers in four French familiesChloé Angelini, Cyril Goizet, Samia Ait Said, et al.Neurobiology of Disease|December 18, 2019
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migrationKévin Duarte, Solveig Heide, Sandrine Poëa-Guyon, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 15, 2021
Tremor-like subcortical myoclonus in STXBP1 encephalopathyAnna Loussouarn, Diane Doummar, Yara Beaugendre, et al.Epilepsy Research|August 8, 2007
Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsyElodie Chabrol, Isabelle Gourfinkel-An, Ingrid E Scheffer, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 16, 2007
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical descriptionStephan Klebe, Alexandra Durr, Naima Bouslam, et al.Brain : a Journal of Neurology|November 27, 2018
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sexLivia Parodi, Silvia Fenu, Mathieu Barbier, et al.Pageof 18