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Familial adult myoclonic epilepsy: A new expansion repeats disorder.
Lagorio I, Zara F, Striano S, Striano P. Lagorio I, et al. Seizure. 2019 Apr;67:73-77. doi: 10.1016/j.seizure.2019.03.009. Epub 2019 Mar 19. Seizure. 2019. PMID: 30928698 Free article. Review.
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant autosomal dominant condition featuring cortical hand tremors, myoclonic jerks, and occasional/rare convulsive seizures. ...FAM …
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant …
Revisiting Brain Tuberous Sclerosis Complex in Rat and Human: Shared Molecular and Cellular Pathology Leads to Distinct Neurophysiological and Behavioral Phenotypes.
Kútna V, O'Leary VB, Newman E, Hoschl C, Ovsepian SV. Kútna V, et al. Neurotherapeutics. 2021 Apr;18(2):845-858. doi: 10.1007/s13311-020-01000-7. Epub 2021 Jan 4. Neurotherapeutics. 2021. PMID: 33398801 Free PMC article. Review.
Tuberous sclerosis complex (TSC) is a dominant autosomal genetic disorder caused by loss-of-function mutations in TSC1 and TSC2, which lead to constitutive activation of the mammalian target of rapamycin C1 (mTORC1) with its decoupling from regulatory inputs. …
Tuberous sclerosis complex (TSC) is a dominant autosomal genetic disorder caused by loss-of-function mutations in TSC1 …
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.
Klebe S, Stevanin G, Depienne C. Klebe S, et al. Rev Neurol (Paris). 2015 Jun-Jul;171(6-7):505-30. doi: 10.1016/j.neurol.2015.02.017. Epub 2015 May 23. Rev Neurol (Paris). 2015. PMID: 26008818 Review.
All modes of inheritance have been described, and the recent technological revolution in molecular genetics has led to the identification of 76 different spastic gait disease-loci with 59 corresponding spastic paraplegia genes. Autosomal recessive HSP are usually associate …
All modes of inheritance have been described, and the recent technological revolution in molecular genetics has led to the identification of …
[Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome].
Demily C, Rossi M, Schneider M, Edery P, Leleu A, d'Amato T, Franck N, Eliez S. Demily C, et al. Encephale. 2015 Jun;41(3):266-73. doi: 10.1016/j.encep.2014.10.005. Epub 2014 Dec 16. Encephale. 2015. PMID: 25523123 Review. French.
Cognitive deficits are seen in the majority (80-100%) of individuals with 22q11DS with impairments in sustained attention, executive function, memory and visual-spatial perception. Borderline intellectual function (IQ: 70-75) is most common, mild intellectual dis …
Cognitive deficits are seen in the majority (80-100%) of individuals with 22q11DS with impairments in sustained attention, executive functio …