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 …
WDR45, one gene associated with multiple neurodevelopmental disorders
The WDR45 gene is localized on the X-chromosome and variants in this gene are linked to
six different neurodegenerative disorders, ie, ß-propeller protein associated …
six different neurodegenerative disorders, ie, ß-propeller protein associated …
[HTML][HTML] Targeted gut microbiota manipulation attenuates seizures in a model of infantile spasms syndrome
Infantile spasms syndrome (IS) is a devastating early-onset epileptic encephalopathy
associated with poor neurodevelopmental outcomes. When first-line treatment options …
associated with poor neurodevelopmental outcomes. When first-line treatment options …
Treatment of infantile spasms
SA Hussain - Epilepsia open, 2018 - Wiley Online Library
The treatment of infantile spasms is challenging, especially in the context of the following:(1)
a severe phenotype with high morbidity and mortality;(2) the urgency of diagnosis and …
a severe phenotype with high morbidity and mortality;(2) the urgency of diagnosis and …
Intermittent vs continuous ketogenic diet: impact on seizures, gut microbiota, and mitochondrial metabolism
We have shown previously that the ketogenic diet (KD) is effective in reducing seizures
associated with infantile spasms syndrome (ISS) and that this benefit is related to alterations …
associated with infantile spasms syndrome (ISS) and that this benefit is related to alterations …
Three different scenarios for epileptic spasms
L Fusco, D Serino, ME Santarone - Epilepsy & Behavior, 2020 - Elsevier
Epileptic Spasms (ES) is a type of seizure usually occurring in the context of a severe
childhood epileptic syndrome associated to significant Electroencephalogram (EEG) …
childhood epileptic syndrome associated to significant Electroencephalogram (EEG) …
Infantile spasms: opportunities to improve care
R Messer, KG Knupp - Seminars in Neurology, 2020 - thieme-connect.com
Infantile spasm (IS) is a distinct epilepsy syndrome characterized by epileptic spasms (the
clinical seizure type) and hypsarrhythmia (the electrographic abnormality). IS is frequently …
clinical seizure type) and hypsarrhythmia (the electrographic abnormality). IS is frequently …
Treatment of infantile spasms: why do we know so little?
N Specchio, N Pietrafusa, A Ferretti… - Expert review of …, 2020 - Taylor & Francis
Introduction Infantile spasm (IS) is an epileptic syndrome with typical onset within the first 2
years of life. This condition might be caused by several etiologies. IS is associated with …
years of life. This condition might be caused by several etiologies. IS is associated with …
West syndrome is an exceptional presentation of pyridoxine-and pyridoxal phosphate-dependent epilepsy: data from a French cohort and review of the literature
M Gibaud, M Barth, J Lefranc, K Mention… - Frontiers in …, 2021 - frontiersin.org
Objective: To characterize the electro-clinical presentation of patients with pyridoxine-
dependent epilepsy (PDE) and pyridoxal phosphate (PLP)-dependent epilepsy in order to …
dependent epilepsy (PDE) and pyridoxal phosphate (PLP)-dependent epilepsy in order to …
Classifying etiology of infantile spasms syndrome in resource‐limited settings: A study from the South Asian region
Objective Etiological classification of infantile spasms syndrome (ISS) is important,
considering the influence on prognosis based on the presence or absence of a known …
considering the influence on prognosis based on the presence or absence of a known …