A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy. [PDF]
Ital J PediatrBai J +8 more
europepmc +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Survey of feeding issues experienced by patients with spinal muscular atrophy type 2 in Japan. [PDF]
J Phys Ther SciUchio Y, Ikai T.
europepmc +1 more source
Epilepsy syndromes classification
Epilepsia Open, EarlyView.Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell +4 more
wiley +1 more source
HeliyonWe report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy.
Xiaojing Yin +7 more
doaj
Rehabilitation management for patients with spinal muscular atrophy: a review. [PDF]
Orphanet J Rare DisSong W, Ke X.
europepmc +1 more source
Case of Progressive Muscular Atrophy following Poliomyelitis [PDF]
, 1924 James Collier
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Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Decoding Neuromuscular Disorders: The Complex Role of Genetic and Epigenetic Regulators. [PDF]
Genes (Basel)Roque-Ramírez B +2 more
europepmc +1 more source
Sven Brandt. Werdnig-Hoffmann's Infantile Progressive Muscular Atrophy. Opera ex Domo Biologiae Hereditariae Humanae Universitatis Hafniensis. Volumen 22. Copenhagen, Munksgaard, 1951. [PDF]
, 1953 openalex +1 more source