Results 111 to 120 of about 15,684 (257)

Epileptic drop attacks: More than just atonic seizures

Epilepsia Open, EarlyView.
Abstract “Drop attacks” are not officially defined by the International League Against Epilepsy. Seizures are characterized by a sudden loss of control over the trunk and posture, leading to falls and injuries, and resolving within a few seconds. Accurately diagnosing the type of seizure is usually difficult due to limitations in clinical documentation
Tomonori Ono, Kazuaki Sato, Ryoko Honda, Hiroshi Otsubo   +3 more
wiley   +1 more source

Estudio clínico-genético de pacientes cubanos con síndrome de West Clinical and genetic studies in Cuban patients suffering from West syndrome

Revista de Ciencias Médicas de Pinar del Río, 2012
El síndrome de West constituye una encefalopatía epiléptica asociada a una amplia diversidad de factores causales, cuyas bases genéticas hasta el momento no se han estudiado en Cuba. Con el objetivo de describir las principales características clínicas y
Anitery Travieso Téllez, Araceli Lantigua Cruz, Ramiro García García   +2 more
doaj  

Phenotypic insights into ADCY5-associated disease [PDF]

, 2016
BACKGROUND: Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea. We provide detailed
Carss, KJ, Chang, FC, Crimmins, D, Dale, RC, Fung, VS, Grattan-Smith, P, Grozeva, D, Hanna, BC, Hunter, M, Klein, C, Kurian, MA, Lawson, JA, Mahant, N, Max, C, Meyer, E, Morris, JG, Münchau, A, Ouvrier, RA, Pall, HS, Perez-Dueñas, B, Pryor, D, Raymond, L, Sachdev, R, Smith, M, Westenberger, A   +24 more
core   +4 more sources

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

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, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Infantile Spasms in Pediatric Down Syndrome: Potential Mechanisms Driving Therapeutic Considerations

Children
Infantile spasms are common in Down Syndrome (DS), but the mechanisms by which DS predisposes to this devastating epilepsy syndrome are unclear.
Carl E. Stafstrom, Li-Rong Shao
doaj   +1 more source

The hairy elbows syndrome: clinical and neuroradiological findings. [PDF]

, 2008
The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces.
CORSELLO, Giovanni, DI PACE, Maria Rita, DIDATO, Maria Angela, FONTANA, Antonina, MANGANO, Salvatore, NARDELLO, Rosaria, TRIPI, Gabriele   +6 more
core  

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, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

ACTH in Infantile Spasms

Pediatric Neurology Briefs, 1990
The relationship between dose of ACTH and the initial effect and long-term prognosis was investigated in 41 children with infantile spasms at the Department of Pediatrics, Kyoto University, Kyoto, Japan.
J Gordon Millichap
doaj   +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, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Prediction of treatment response in infantile epileptic spasms syndrome using EEG phase–amplitude coupling

Epilepsia Open, EarlyView.
Abstract Objective Treatment selection for infantile epileptic spasms syndrome (IESS) is complex and multifaceted, and currently no electroencephalogram (EEG) biomarkers can guide this decision by predicting treatment response. We tested the predictive value of phase–amplitude coupling (PAC) as IESS patients are known to have elevated PAC.
Soudeh Mostaghimi, Marco A. Pinto‐Orellana, Nathaniel Green, Daniel W. Shrey, Makoto Miyakoshi, Shaun A. Hussain, Beth A. Lopour   +6 more
wiley   +1 more source