Results 131 to 140 of about 2,875,412 (170)

Efficacy of ACTH therapy in treating infantile epileptic spasm syndrome and its effect on Kramer score. [PDF]

Am J Transl Res
Li F, Bai D, Li J, Yuan Q, Wang X, Qu J.
europepmc   +1 more source

Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects. [PDF]

Antioxidants (Basel)
Haham Zarbib Y, Huri Ohev-Shalom S, Lyskov SK, Mazor Y, Anekstein-Spigel M, Shalva N, Spiegel R, Staretz-Chacham O, Manor J, Saada A, Rock R, Anikster Y, Yardeni T.   +12 more
europepmc   +1 more source

The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy. [PDF]

Acta Epileptol
Shi Y, Wei Z, Feng Y, Gan Y, Li G, Deng Y.   +5 more
europepmc   +1 more source

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Does Etiology and Hypsarrhythmia Subtype Influence Outcome in West Syndrome? Challenges Encountered from a Referral Center Perspective

Neurology India, 2022
Background: Prediction of outcome of West syndrome (WS) in relation to etiology and electrophysiology remain pertinent challenges. Objective: This study aimed to compare electro-clinical and imaging characteristics between WS of “unknown-etiology ...
S. Chandrasekharan, R. Menon, S. Nanda, Jeevan S Nair, A. Radhakrishnan, A. Cherian, Sanjeev V Thomas   +6 more
semanticscholar   +1 more source

High-Dose Prednisolone for Treatment of Infantile Spasms After Presumed Perinatal Stroke.

Journal of Neuroscience Nursing, 2021
BACKGROUND: High-dose prednisone and prednisolone have been increasingly studied as a lower-cost alternative to adrenocorticotropic hormone for the treatment of infantile spasms, but this treatment has not been well studied in children with infantile ...
K. R. Hall, M. Golomb
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Epileptic spasms in clusters without hypsarrhythmia in infancy.

Epileptic disorders, 2003
Spasms are defined as epileptic seizures characterized by brief axial contraction, in flexion, extension or mixed, symmetric or asymmetric, lasting from a fraction of a second to 1-2s, and are associated with a slow-wave transient or sharp and slow-wave ...
R. Caraballo, N. Fejerman, B. Bernardina, V. Ruggieri, R. Cersósimo, C. Medina, J. Pociecha   +6 more
semanticscholar   +1 more source

Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report.

Epileptic disorders, 2019
Asparagine synthetase deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in the asparagine synthetase gene. It is characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and ...
Paola Costa, C. Zanus, F. Faletra, Giulia Ventura, Giulia Maria di Marzio, C. Cervesi, M. Carrozzi   +6 more
semanticscholar   +1 more source

Expanding the Phenotypic Spectrum of DPH2 ‐Related Disorder

American Journal of Medical Genetics. Part A
Biallelic variants in DPH2 have recently been reported to cause the syndrome of developmental delay with short stature, dysmorphic facial features, and sparse hair‐2, also known as diphthamide deficiency syndrome‐2.
V. Gowda, Varunvenkat M. Srinivasan, U. Kinhal, S. Srinivas, Himani Pandey, Nagaraja M Phani, Pavithra Dhayalan, Devi Lal   +7 more
semanticscholar   +1 more source

[Infantile spasms and modified hypsarrhythmia].

Harefuah, 2011
The West syndrome was described by the physician West in his own son in 1841 and is defined as a triad of myoclonic seizures called "infantile spasms", electrographic abnormalities called "hypsarrhythmia" and arrest of psychomotor development and mental retardation.
Ayelet, Halevy, Sara, Kiviti, Hadassa, Goldberg-Stern, Avinoam, Shuper   +3 more
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Hypsarrhythmia: Variations on the Theme

Epilepsia, 1984
R. Hrachovy, J. Frost, P. Kellaway
semanticscholar   +1 more source