Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1
KM Thalwitzer, JH Driedger, J Xian, A Saffari… - Neurology, 2023 - AAN Enterprises
Background and Objectives Pathogenic variants in STXBP1 are among the major genetic
causes of neurodevelopmental disorders. Despite the increasing number of individuals …
causes of neurodevelopmental disorders. Despite the increasing number of individuals …
Radiprodil, a NR2B negative allosteric modulator, from bench to bedside in infantile spasm syndrome
S Auvin, B Dozières‐Puyravel… - Annals of Clinical …, 2020 - Wiley Online Library
Objective Infantile spasm syndrome (ISS) is an epileptic encephalopathy without established
treatment after the failure to standard of care based on steroids and vigabatrin. Converging …
treatment after the failure to standard of care based on steroids and vigabatrin. Converging …
The link between brain acidosis, breathing and seizures: a novel mechanism of action for the ketogenic diet in a model of infantile spasms
A Choudhary, C Mu, KT Barrett… - Brain …, 2021 - academic.oup.com
Infantile spasms (IS) syndrome is a catastrophic, epileptic encephalopathy of infancy that is
often refractory to current antiepileptic therapies. The ketogenic diet (KD) has emerged as an …
often refractory to current antiepileptic therapies. The ketogenic diet (KD) has emerged as an …
Fulminant vigabatrin toxicity during combination therapy with adrenocorticotropic hormone for infantile spasms: Three cases and review of the literature
S Bhalla, K Skjei - Epilepsia, 2020 - Wiley Online Library
Abstract Vigabatrin (VGB), adrenocorticotropic hormone (ACTH), and prednisone are first‐
line treatments for infantile spasms (IS). A recent study reported benefits from the use of …
line treatments for infantile spasms (IS). A recent study reported benefits from the use of …
[HTML][HTML] Infantile spasms: an update on pre-clinical models and EEG mechanisms
R Janicot, LR Shao, CE Stafstrom - Children, 2020 - mdpi.com
Infantile spasms (IS) is an epileptic encephalopathy with unique clinical and electrographic
features, which affects children in the middle of the first year of life. The pathophysiology of …
features, which affects children in the middle of the first year of life. The pathophysiology of …
Evolution of infantile spasms to Lennox-Gastaut syndrome: what is there to know?
JA Nelson, S Demarest, J Thomas… - Journal of child …, 2021 - journals.sagepub.com
Objective: Children with infantile spasms may develop Lennox-Gastaut syndrome. The
diagnostic criteria for Lennox-Gastaut syndrome are vague, and many experts use varying …
diagnostic criteria for Lennox-Gastaut syndrome are vague, and many experts use varying …
[HTML][HTML] Infantile spasms: etiology, lead time and treatment response in a resource limited setting
P Surana, JD Symonds, P Srivastava, TS Geetha… - Epilepsy & Behavior …, 2020 - Elsevier
This study explores the etiology and lead time to treatment for infantile spasm (IS) patients
and their effect on treatment responsiveness, in a limited resource setting. Patients with IS …
and their effect on treatment responsiveness, in a limited resource setting. Patients with IS …
Fifteen years of real‐world data on the use of vigabatrin in individuals with infantile epileptic spasms syndrome
M Kuchenbuch, T Lo Barco, N Chemaly, C Chiron… - …, 2024 - Wiley Online Library
Objective This study was undertaken to evaluate our treatment algorithm for infantile
epileptic spasms syndrome (IESS) used between 2000 and 2018. We initiated vigabatrin …
epileptic spasms syndrome (IESS) used between 2000 and 2018. We initiated vigabatrin …
Pharmacotherapy for seizures in tuberous sclerosis complex
R Nabbout, M Kuchenbuch, C Chiron, P Curatolo - CNS drugs, 2021 - Springer
Epilepsy is one of the main symptoms affecting the lives of individuals with tuberous
sclerosis complex (TSC), causing a high rate of morbidity. Individuals with TSC can present …
sclerosis complex (TSC), causing a high rate of morbidity. Individuals with TSC can present …
[HTML][HTML] 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 …