Infantile Spasms Treated with the Ketogenic Diet
Pediatric Neurology Briefs, 2010 Researchers at Johns Hopkins Hospital, Baltimore, MD have evaluated the efficacy of the ketogenic diet in the treatment of 104 consecutive infants with infantile spasms (IS) and hypsarrhythmia on EEG.
J Gordon Millichap
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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
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Markedly Elevated Nitrate/Nitrite Levels in the Cerebrospinal Fluid of Children with Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy (PEHO Syndrome) [PDF]
, 2000 Sampsa Vanhatalo, Raili Riikonen
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Novel characterization method of impedance cardiography signals using time-frequency distributions [PDF]
, 2018 The purpose of this document is to describe a methodology to select the most adequate time-frequency distribution (TFD) kernel for the characterization of impedance cardiography signals (ICG). The predominant ICG beat was extracted from a patient and was
Escrivá Muñoz, Jesús +4 more
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Effect of ACTH Therapy for Epileptic Spasms without Hypsarrhythmia [PDF]
, 2005 Hirokazu Oguni +6 more
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High Dose ACTH for Infantile Spasms
Pediatric Neurology Briefs, 1989 The efficacy and plasma levels of ACTH and Cortisol were studied in 15 children with infantile spasms and hypsarrhythmia using a high dose (150 IU/M2/D ACTH) and are reported from the Department of Pediatrics, University of Alabama at Birmingham School ...
J Gordon Millichap
doaj +1 more source
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome [PDF]
, 2017 Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills etal. show that PNPO mutations can also cause neonatal onset seizures that respond to pyridoxine but worsen
Bala, Pronab +25 more
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SLC35A2-related congenital disorder of glycosylation : Defining the phenotype [PDF]
, 2018 We aim to further delineate the phenotype associated with pathogenic variants in the SLC35A2 gene, and review all published literature to-date. This gene is located on the X chromosome and encodes a UDP-galactose transporter.
Balasubramanian, Meena +10 more
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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]
, 2017 Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-α-aminoadipic semialdehyde/l-Δ1 ...
Aylett, Sarah +22 more
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Neuronal networks in children with continuous spikes and waves during slow sleep [PDF]
, 2017 Epileptic encephalopathy with continuous spikes and waves during slow sleep is an age-related disorder characterized by the presence of interictal epileptiform discharges during at least >85% of sleep and cognitive deficits associated with this ...
Boor, Rainer +9 more
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