[HTML][HTML] Tackling healthcare access barriers for individuals with autism from diagnosis to adulthood
N Malik-Soni, A Shaker, H Luck, AE Mullin… - Pediatric …, 2022 - nature.com
Most individuals with autism spectrum disorder (ASD)—a complex, life-long developmental
disorder—do not have access to the care required to address their diverse health needs …
disorder—do not have access to the care required to address their diverse health needs …
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …
disorders characterized by early-onset, often severe epileptic seizures and EEG …
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology …
Abstract The 2017 International League Against Epilepsy classification has defined a three‐
tier system with epilepsy syndrome identification at the third level. Although a syndrome …
tier system with epilepsy syndrome identification at the third level. Although a syndrome …
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort
JD Symonds, SM Zuberi, K Stewart, A McLellan… - Brain, 2019 - academic.oup.com
Epilepsy is common in early childhood. In this age group it is associated with high rates of
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …
Developmental and epileptic encephalopathies
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …
characterized by seizures and frequent epileptiform activity associated with developmental …
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress
The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
A Brunklaus, T Brünger, T Feng, C Fons, A Lehikoinen… - Brain, 2022 - academic.oup.com
Brain voltage-gated sodium channel NaV1. 1 (SCN1A) loss-of-function variants cause the
severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic …
severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic …
Developmental and epileptic encephalopathies: what we do and do not know
N Specchio, P Curatolo - Brain, 2021 - academic.oup.com
Developmental encephalopathies, including intellectual disability and autistic spectrum
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …
Sodium channelopathies in neurodevelopmental disorders
The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …