Results 151 to 160 of about 57,978 (299)
Epilepsia Open, EarlyView.Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira +5 more
wiley +1 more source
The multiple hit model of infantile and epileptic spasms: The 2025 update
Epilepsia Open, EarlyView.Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou +6 more
wiley +1 more source
Ketogenic diet for infantile epileptic spasms
Epilepsia Open, EarlyView.Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury +3 more
wiley +1 more source
An iEEG investigation on sex‐specific differences in seizure duration
Epilepsia Open, EarlyView.Abstract Objective Male people with epilepsy (mPWE) are at higher risk for bilateral tonic–clonic seizures (BTCs) and sudden unexpected death in epilepsy (SUDEP) compared to female people with epilepsy (fPWE). Despite major clinical and personal implications, little is known about sex‐specific differences in seizure propagation and termination ...
Paula Albert I Gracenea +4 more
wiley +1 more source
Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome
Food Biomacromolecules, EarlyView.Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley +1 more source
Gait Alterations Due to DCC Gene Variants in Individuals with Congenital Mirror Movements
Movement Disorders Clinical Practice, EarlyView.Abstract Background Congenital Mirror Movement Syndrome (CMMS) involves involuntary movements on one side of the body while voluntary movements are performed on the other side. They disrupt left–right coordination and can be caused by a pathogenic variant in the DCC gene.
Nok‐Yeung Law +7 more
wiley +1 more source
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
Movement Disorders, EarlyView.Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot +22 more
wiley +1 more source
Movement Disorders, EarlyView.D2 receptor ablation in indirect‐pathway striatal neurons reduces or abolishes dyskinetic and dystonic behaviors induced by L‐DOPA or D2 receptor agonists, respectively. Contralateral turning is reduced, while forward locomotion is increased. These effects are associated with modulation of neuronal activity in dorsal striatum and external globus ...
Laura Andreoli +5 more
wiley +1 more source