Results 51 to 60 of about 2,875,412 (170)
, 2022 Background: Negative regulator of reactive oxygen species (NRROS) related microgliopathy, a rare and recently recognized neurodegenerative condition, is caused by pathogenic variants in the NRROS gene, which plays a major role in the regulation of ...
Ahuja, Chirag +6 more
core +3 more sources
Muscle &Nerve, EarlyView.ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell +8 more
wiley +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
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American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio +12 more
wiley +1 more source
Infantile spasms: review of the literature and personal experience [PDF]
, 2010 This epileptic disorder has become a classic topic for neuropediatricians and the interest is documented by the large number of publications on this ...
Fois, Alberto
core +3 more sources
Epilepsia, Volume 67, Issue 1, Page 299-314, January 2026.Abstract Objective Conditions presenting with both epilepsy and movement disorders (EPIMDs) range from relatively benign cases to severe developmental encephalopathies. However, the full clinical and genetic spectrum still needs to be better defined.
Davide Caputo +15 more
wiley +1 more source
How do the many etiologies of West syndrome lead to excitability and seizures? The corticotropin releasing hormone excess hypothesis. [PDF]
, 2001 West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present ...
Baram, TZ, Brunson, KL, Eghbal-Ahmadi, M
core
A practical guide to the updated seizure classification 2025
Epileptic Disorders, Volume 27, Issue 6, Page 1087-1104, December 2025.Abstract This paper provides a practical guide to applying the updated seizure classification in clinical settings. The updated classification, published by the International League Against Epilepsy in 2025, builds on the operational classification introduced in 2017.
Sándor Beniczky +22 more
wiley +1 more source
Cerebral Palsy and Epilepsy [PDF]
, 2018 The frequency of epilepsy in children with cerebral palsy is 40 times higher than the common population rate. The presence of epilepsy aggravates the clinical course of cerebral palsy, complicates the rehabilitation, affects the prognosis of motor and ...
Kholin, Alexey
core +2 more sources
Novel ARX mutation identified in infantile spasm syndrome patient [PDF]
, 2020 journal ...
0000001892 +11 more
core +1 more source