Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor +7 more
wiley +1 more source
ACTH treatment of infantile spasms: mechanisms of its effects in modulation of neuronal excitability. [PDF]
, 2002 The efficacy of ACTH, particularly in high doses, for rapid and complete elimination of infantile spasms (IS) has been demonstrated in prospective controlled studies. However, the mechanisms for this efficacy remain unknown.
Avishai-Eliner, S +2 more
core +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
Infantile spasms: hypothesis-driven therapy and pilot human infant experiments using corticotropin-releasing hormone receptor antagonists. [PDF]
, 1999 Background and rationaleInfantile spasms (IS) are an age-specific seizure disorder occurring in 1:2,000 infants and associated with mental retardation in approximately 90% of affected individuals. The costs of IS in terms of loss of lifetime productivity
Baram, TZ +3 more
core
The 50 years experience of adrenocorticotropic hormone (ACTH) use in West Syndrome: literatura review and UNIFESP protocol [PDF]
, 2008 INTRODUÇÃO: A eficácia do ACTH no tratamento da Síndrome de West (SW) é extensivamente debatida na literatura, o mesmo ocorrendo em relação às doses, efeitos colaterais e protocolos de utilização.
GARZON, Eliana +2 more
core +2 more sources
West syndrome: long-term outcomes depending on etiology and treatment (literature review)
Русский журнал детской неврологии, 2019 West syndrome is a severe form of childhood epilepsy associated with drug-resistant seizures and intellectual disability. The disease is characterized by specific seizures called infantile spasms, hypsarrhythmia on the electroencephalogram, and delayed ...
T. M. Prygunova
doaj +1 more source
Discrimination of secondary hypsarrhythmias to Zika virus congenital syndrome and west syndrome based on joint moments and entropy measurements [PDF]
, 2022 Priscila Lima Rocha +4 more
openalex +1 more source
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations [PDF]
, 2013 Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified.
AL Jarmas +48 more
core +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
The acrocallosal syndrome: A case report and literature survey [PDF]
, 2009 Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey +2 more
core +1 more source