Do all roads lead to Rome? Genes causing Dravet syndrome and Dravet syndrome-like phenotypes

J Ding, L Wang, Z Jin, Y Qiang, W Li, Y Wang… - Frontiers in …, 2022 - frontiersin.org
Background Dravet syndrome (DS) is a severe epileptic encephalopathy mainly caused by
haploinsufficiency of the gene SCN1A, which encodes the voltage-gated sodium channel …

[HTML][HTML] Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (< 5 years) with Dravet syndrome: a critical …

KI Bishop, PK Isquith, GA Gioia, KG Knupp… - Epilepsy & Behavior, 2023 - Elsevier
Objective To evaluate whether fenfluramine (FFA) is associated with improvement in
everyday executive function (EF)—self-regulation—in preschool-aged children with Dravet …

Learnings in developmental and epileptic encephalopathies: what do we know?

MG Perinelli, A Riva, E Amadori, R Follo… - Expert Review of …, 2023 - Taylor & Francis
ABSTRACT Introduction Developmental and Epileptic Encephalopathies (DEEs)
encompass a group of neurological disorders caused by either abnormal neuronal …

Fenfluramine below the age of 2 years in Dravet syndrome: What about safety and efficacy?

N Pietrafusa, M Trivisano, S Casellato, C Correale… - …, 2024 - Wiley Online Library
Dravet syndrome (DS) is a rare developmental and epileptic encephalopathy. Infants with
DS are especially vulnerable to the detrimental effects of prolonged and frequent seizures …

Functional mobility in children and young adults with Dravet syndrome

K Verheyen, L Wyers, E Lambrecht… - … Medicine & Child …, 2023 - Wiley Online Library
Aim This cohort study aimed to describe functional mobility in Dravet syndrome, a
developmental and epileptic encephalopathy. Method Functional mobility was assessed in …

Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the …

MS Perry, IE Scheffer, J Sullivan, A Brunklaus… - …, 2024 - Wiley Online Library
Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy
characterized by high seizure burden, treatment‐resistant epilepsy, and developmental …

Disentangling cerebellar and parietal contributions to gait and body schema: a repetitive transcranial magnetic stimulation study

M Bertuccelli, P Bisiacchi, A Del Felice - The Cerebellum, 2024 - Springer
The overlap between motor and cognitive signs resulting from posterior parietal cortex
(PPC) and cerebellar lesions can mask their relative contribution in the sensorimotor …

Quantitative Characterization of Motor Control during Gait in Dravet Syndrome Using Wearable Sensors: A Preliminary Study

MC Bisi, R Di Marco, F Ragona, F Darra, M Vecchi… - Sensors, 2022 - mdpi.com
Dravet syndrome (DS) is a rare and severe form of genetic epilepsy characterized by
cognitive and behavioural impairments and progressive gait deterioration. The …

SCN1A and Dravet syndrome

RE Rosch, EM Goldberg - Febrile Seizures, 2023 - Elsevier
Dravet syndrome (DS) is a severe neurodevelopmental disorder largely due to
heterozygous pathogenic variants in SCN1A encoding the voltage-gated sodium channel α …

[PDF][PDF] The evolution of motor development and gait in children and young adults with Dravet syndrome

K Verheyen - 2022 - repository.uantwerpen.be
Dravet syndrome is a rare developmental epileptic encephalopathy starting in infancy 1. A
mutation in the voltage-gated sodium channel alpha subunit 1 (SCN1A) gene is reported in …