Association of serum insulin-like growth factor-1 and adrenocorticotropic hormone therapeutic response in patients with infantile epileptic spasms syndrome [PDF]
BackgroundInfantile epileptic spasm syndrome (IESS), a rare age-specific epileptic encephalopathy, exhibits limited therapeutic efficacy, with approximately 50% of patients showing resistance to adrenocorticotropic hormone (ACTH) monotherapy.
Ka-Na Lin +9 more
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Infantile spasms and developmental delay: A case of miller–Dieker syndrome
Background: Miller–Dieker syndrome (MDS) is a rare genetic disorder, due to contiguous gene deletion on chromosome 17p13.3, characterized by classical type I lissencephaly, severe developmental delay, seizures, cardiac defects, and dysmorphisms.
Jewel Maria George +3 more
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Epileptic Encephalopathies, CDKL5 Mutations, and Infantile Spasms
Researchers at the Mayo Clinic, Rochester, MN performed retrospective chart reviews of 6 children with epilepsy and CDKL5 mutations.
J Gordon Millichap
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Developmental Outcome of West Syndrome
Medical records of 32 patients with cryptogenic West syndrome were reviewed for factors correlating with developmental outcome in a study at Saitama Children’s Medical Center, and the Jikei University School of Medicine, Tokyo, Japan.
J Gordon Millichap
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X-Linked Mental Retardation and Epilepsy Syndrome
A kindred of 7 affected male infants with an X-linked mental retardation and epilepsy syndrome (XMRE), distinct from X-linked West and other mental retardation-epilepsy syndromes, is reported from the University of Michigan, Ann Arbor, MI.
J Gordon Millichap
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ACTH Therapy in Epileptic Spasms without Hypsarrhythmia
The short and long-term effects of adrenocorticotrophic hormone (ACTH) in 30 children ages 11 to 86 months (median 29 months) with epileptic spasms (ES) without hypsarrhythmia were analyzed at Tokyo Women’s Medical University, Japan.
J Gordon Millichap
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Infantile Spasms: An Update on Pre-Clinical Models and EEG Mechanisms
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 IS remains incompletely understood, despite the heterogeneity of
Remi Janicot +2 more
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Connectivity Analysis of Hypsarrhythmia-EEG for Infants With West Syndrome
Detection of hypsarrhythmia electroencephalography (EEG) in infants with West syndrome (WS) is currently performed by manual inspection of long-term video/EEG recording, producing low inter-rater reliability.
Di Lian +10 more
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Interpretation of electroencephalography in infants
Aim: Based on published reports and our own observations, we aimed to assign the graphical elements of EEG into normal and abnormal groups and then identify up to five main graphic elements in each group to facilitate visual analysis and interpretation ...
A. G. Koshchavtsev, S. V. Grechanyi
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Clinical Features and Treatment Efficacy in Mutation-Related Epileptic Encephalopathy in the Infant [PDF]
Purpose Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with epileptic encephalopathy and severe cognitive impairment. We aim to characterize the association between this gene and treatment efficacy. Methods We retrospectively
Chung Mo Koo +6 more
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