[PDF][PDF] 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Hereditary spastic paraplegias: an update

C Depienne, G Stevanin, A Brice… - Current opinion in …, 2007 - journals.lww.com
Hereditary spastic paraplegias: an update : Current Opinion in Neurology Hereditary spastic
paraplegias: an update : Current Opinion in Neurology Log in or Register Subscribe to …

Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting

S Klebe, G Stevanin, C Depienne - Revue neurologique, 2015 - Elsevier
Hereditary spastic paraplegias (HSPs) are genetically determined neurodegenerative
disorders characterized by progressive weakness and spasticity of lower limbs, and are …

[HTML][HTML] Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

CS Leblond, C Nava, A Polge, J Gauthier… - PLoS …, 2014 - journals.plos.org
SHANK genes code for scaffold proteins located at the post-synaptic density of
glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the …

[HTML][HTML] Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

C Depienne, D Bouteiller, B Keren, E Cheuret… - PLoS …, 2009 - journals.plos.org
Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused
by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular …

The phenotypic spectrum of SCN8A encephalopathy

J Larsen, GL Carvill, E Gardella, G Kluger… - Neurology, 2015 - AAN Enterprises
Objective: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1. 6). SCN8A
mutations have recently been associated with epilepsy and neurodevelopmental disorders …

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

C Depienne, O Trouillard, C Saint-Martin… - Journal of medical …, 2009 - jmg.bmj.com
Introduction: Mutations in the voltage-gated sodium channel SCN1A gene are the main
genetic cause of Dravet syndrome (previously called severe myoclonic epilepsy of infancy or …

[PDF][PDF] De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

S Appenzeller, R Balling, N Barisic, S Baulac… - The American Journal of …, 2014 - cell.com
Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

C Nava, C Dalle, A Rastetter, P Striano, CGF de Kovel… - Nature …, 2014 - nature.com
Hyperpolarization-activated, cyclic nucleotide–gated (HCN) channels contribute to cationic I
h current in neurons and regulate the excitability of neuronal networks. Studies in rat models …

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

G Stevanin, H Azzedine, P Denora, A Boukhris, M Tazir… - Brain, 2008 - academic.oup.com
Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized
by lower limb spasticity associated, in complicated forms, with additional neurological signs …