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 …
CDKL5 deficiency disorder: clinical features, diagnosis, and management
CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004.
Although initially considered a variant of Rett syndrome, CDD is now recognised as an …
Although initially considered a variant of Rett syndrome, CDD is now recognised as an …
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
SM Zuberi, E Wirrell, E Yozawitz, JM Wilmshurst… - …, 2022 - Wiley Online Library
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 …
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 …
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
KM Johannesen, Y Liu, M Koko, CE Gjerulfsen… - Brain, 2022 - academic.oup.com
We report detailed functional analyses and genotype-phenotype correlations in 392
individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ …
individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ …
[HTML][HTML] Epilepsy-related voltage-gated sodium channelopathies: a review
LFS Menezes, EF Sabiá Júnior, DV Tibery… - Frontiers in …, 2020 - frontiersin.org
Epilepsy is a disease characterized by abnormal brain activity and a predisposition to
generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and …
generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and …
Impact of predictive, preventive and precision medicine strategies in epilepsy
R Nabbout, M Kuchenbuch - Nature Reviews Neurology, 2020 - nature.com
Over the last decade, advances in genetics, neuroimaging and EEG have enabled the
aetiology of epilepsy to be identified earlier in the disease course than ever before. At the …
aetiology of epilepsy to be identified earlier in the disease course than ever before. At the …
Gene variant effects across sodium channelopathies predict function and guide precision therapy
A Brunklaus, T Feng, T Brünger, E Perez-Palma… - Brain, 2022 - academic.oup.com
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …
Sodium channelopathies of skeletal muscle and brain
M Mantegazza, S Cestèle… - Physiological …, 2021 - journals.physiology.org
Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other
electrically excitable cells. Mutations in them cause a wide range of diseases. These …
electrically excitable cells. Mutations in them cause a wide range of diseases. These …