Results 61 to 70 of about 2,075 (154)
JIMD Reports, Volume 67, Issue 2, March 2026.ABSTRACT Succinate dehydrogenase (SDH) serves a dual function as complex II of the electron transport chain and an enzyme of the tricarboxylic acid cycle. Pathogenic variants in subunits of SDH result in diverse clinical presentations, including typically autosomal recessive neurodegenerative disorders. Biallelic variants in the SDHA subunit most often
Aaron B. Bowen +7 more
wiley +1 more source
Maternal Child‐Directed Speech Toward Children With Infantile Spasm or West Syndrome
International Journal of Language &Communication Disorders, Volume 61, Issue 2, March/April 2026.ABSTRACT Background Maternal child‐directed speech (MCDS) plays a critical role in early language and communicative development, yet little is known about how it adapts to neurodevelopmental conditions such as Infantile Spasms/West Syndrome (WS), particularly when co‐occurring with intellectual disability (WID) or autism spectrum disorder (WASD).
Le Normand M.T. +6 more
wiley +1 more source
Epidemiology of Infantile Spasms in Iceland
Pediatric Neurology Briefs, 1994 Incidence, etiology, development, EEG, response to ACTH, and follow-up of all cases of infantile spasms diagnosed in Iceland during a 10-year period are reported from the National University Hospital, Reykjavik, Iceland, and Columbia University, New York.
J Gordon Millichap
doaj +1 more source
Theophylline-Induced Infantile Spasms
Pediatric Neurology Briefs, 1995 Infantile spasms and hypsarrhythmia developed in a 6-month-old infant with asthma after 3 days treatment with theophylline at the Royal Belfast Hospital for Sick Children, Northern Ireland.
J Gordon Millichap
doaj +1 more source
Interictal EEG features as computational biomarkers of West syndrome
Frontiers in PediatricsBackgroundWest syndrome (WS) is a devastating epileptic encephalopathy with onset in infancy and early childhood. It is characterized by clustered epileptic spasms, developmental arrest, and interictal hypsarrhythmia on electroencephalogram (EEG ...
Jiaqing Li +5 more
doaj +1 more source
Pineal and Ependymal Cysts and Infantile Spasms
Pediatric Neurology Briefs, 1995 A 3-month-old infant with infantile spasms and hypsarrhythmia associated with multiple pineal cysts and an ependymal cyst is reported from Marmara University Medical Center, Istanbul, Turkey.
J Gordon Millichap
doaj +1 more source
Efficacy of Vigabatrin Oral Suspension in Infantile Epileptic Spasms Syndrome: A Systematic Review
Archives of EpilepsyInfantile epileptic spasms syndrome is a rare and severe epilepsy syndrome in infants. It is identified by clusters of spasms, developmental regression, and hypsarrhythmia.
Vinod Kumar Singh +3 more
doaj +1 more source
Vigabatrin Monotherapy for Infantile Spasms
Pediatric Neurology Briefs, 1995 The successful management of 21 children with infantile spasms and hypsarrhythmia using vigabatrin monotherapy is reported from the Alder Hey Children’s Hospital, Liverpool, UK.
J Gordon Millichap
doaj +1 more source
BRAIN TUMORS AND INFANTILE SPASMS
Pediatric Neurology Briefs, 1995 Two patients, aged 6 and 7 months, with brain tumors who presented with infantile spasms and hypsarrhythmia are reported from Sapporo and Asahikawa Medical Universities, Japan.
J Gordon Millichap
doaj +1 more source
Multifocal Independent Spike Syndrome
Pediatric Neurology Briefs, 1995 The relationship of the syndrome of multifocal independent spikes (MIS) to hypsarrhythmia and the slow spike-wave (Lennox-Gastaut) syndrome was studied in 64 children with MIS examined during a 3-year period at the Cleveland Clinic, Ohio.
J Gordon Millichap
doaj +1 more source