Experts and Doctors on intellectual disability in Montréal, Quebec, Canada
Locale: Montréal, Quebec, Canada
Topic: intellectual disability
Hamdan F, Myers C, Cossette P, Lemay P, Spiegelman D, Laporte A, et al
. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017;101:664-685 pubmed publisher
..Moreover, these DNMs were more frequently recurrent than those identified in ID series. These observations indicate that the genetic landscape of DEE might be different from that of ID without epilepsy. ..
Bramswig N, Lüdecke H, Hamdan F, Altmuller J, Beleggia F, Elcioglu N, et al
. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum Genet. 2017;136:821-834 pubmed publisher
Srour M, Shimokawa N, Hamdan F, Nassif C, Poulin C, Al Gazali L, et al
. Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy. Am J Hum Genet. 2017;100:824-830 pubmed publisher
..Identification of additional individuals with mutations in SLC45A1 will allow better definition of the associated phenotypic spectrum and the exploration of potential targeted treatment options. ..
Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan M, Stark Z, et al
. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain. 2017;140:2093-2103 pubmed publisher
..The identification of MCM3AP variants in affected individuals from multiple centres establishes it as a disease gene for childhood-onset recessively inherited Charcot-Marie-Tooth neuropathy with intellectual disability. ..