Results 41 to 50 of about 6,644 (221)
Lamotrigine Therapy in Neuronal Lipofuscinosis
Pediatric Neurology Briefs, 1999 Lamotrigine (LTG) long-term anticonvulsant therapy was evaluated in 29 patients, aged 6-28 years (mean, 14 years), with juvenile neuronal ceroid lipofuscinosis (JNCL), followed for 1-6 years (mean, 3 years) at the Hospital for Children and Adolescents ...
J Gordon Millichap
doaj +1 more source
International Clinical Neuroscience Journal, 2021 Ceroid neuronal lipofuscinosis (CLN) is a rare group of autosomal recessive neurodegenerative diseases that cause developmental delay and seizures. Herein, we present a case of a 7-year-old girl who referred for magnetic resonance imaging (MRI) following
Antonio Gomes Lima Júnior +8 more
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, 2011 This study sought to genetically define the first family diagnosed with neuronal ceroid lipofuscinosis from Qatar. Onset was in late infancy (3 years), and sequencing in the affected children revealed a novel homozygous c.613C>T change in exon 3 of ...
Sara E. Mole +6 more
core +1 more source
Adult-Onset Neuronal Ceroid Lipofuscinosis in a Shikoku Inu
Veterinary Sciences, 2021 A two-year-and-eleven-month-old male Shikoku Inu was referred for evaluation of progressive gait abnormality that had begun three months prior. Neurological examination revealed ventral flexion of the neck, a wide-based stance in the hindlimb, wide ...
Shinji Tamura +7 more
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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
Plasma biomarkers for neuronal ceroid lipofuscinosis [PDF]
The FEBS Journal, 2015 The neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative genetic diseases that primarily affect children and have no known cure. A unified clinical rating scale for the juvenile form of NCL has been developed, although it has not been validated in other subtypes and does not give a true measure of the pathophysiological changes ...
Samantha L, Hersrud +4 more
openaire +2 more sources
Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina
Journal of Inborn Errors of Metabolism and Screening, 2022 Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CLN2/TPP1 gene, leading to a deficiency in tripeptidyl peptidase 1 activity.
Guillermo Guelbert, Norberto Guelbert
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Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source
Audiogenic reflex seizures in cats
, 2015 This study aims at characterizing feline audiogenic reflex seizures (FARS). An online questionnaire was developed to capture information from owners with cats suffering FARS.
Sparkes, A +5 more
core +1 more source
Lipofuscinose Ceroide Infantil Precoce--o papel da Ressonância Magnética Nuclear no diagnóstico.
Acta Médica Portuguesa, 2001 The authors report a case of Infantile Neuronal Ceroid Lipofuscinosis and emphasize the role of MRI in the diagnosis and follow-up of the disease describing a severe progressive cerebral atrophy.
A M Reis +4 more
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