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Novel Syndrome With Congenital Thumb Aplasia, Epilepsy, Cognitive Impairment, and Myopathy: A Case Report.
Cureus
December 2024
Neurology, Neurology and Neurophysiology Center, Vienna, AUT.
The combination of thumb aplasia, epilepsy, cognitive impairment, skeletal deformities, and myopathy has not been previously reported. The patient is a 22-year-old man with congenital bilateral thumb aplasia, developmental delay, and cognitive impairment who suffered a first tonic-clonic seizure at the age of 16 and was treated with valproic acid (VPA). At the age of 22, lamotrigine was added due to seizure recurrences and absences.
View Article and Find Full Text PDFAnti-GAD65 musicogenic epilepsy: Bilateral and independent mesial temporal seizures revealed by foramen ovale electrodes.
Epilepsia Open
January 2025
Epilepsy Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Musicogenic epilepsy (ME) is characterized by seizures triggered by music. The epileptogenic focus in this rare reflex epilepsy is often in the temporal lobe, although the precise localization is still unclear. A correlation between ME and the presence of GAD65 antibodies indicates a potential immunological pathogenic mechanism.
View Article and Find Full Text PDFEvaluation of the effects of carbamazepine-loaded chitosan-coated PLGA-Zein nanoparticles on pilocarpine-induced seizure model in zebrafish larvae: Developmental toxicity and behavioral assays.
Environ Toxicol Chem
January 2025
Department of Pharmaceutical Technology, Faculty of Pharmacy, Atatürk University, Erzurum, Türkiye.
Epilepsy, the most common neurological disorder worldwide, is characterized by sudden paroxysmal brain activity, which can be generalized or focal. Extensive research has explored various treatment strategies for this condition. Our study employed a pilocarpine (PL)-induced seizure model in zebrafish (Danio rerio) embryos and larvae to assess the effects of carbamazepine (CBZ)-loaded chitosan-coated PLGA-Zein nanoparticles (NPs) over 96 hours.
View Article and Find Full Text PDFNeurological and Cognitive Effects of Hypothyroidism in Patients With Epilepsy: A Study on Anti-Seizure Medicines Therapy.
J Neurosci Res
January 2025
Department of Anaesthesiology and Intensive Care, Medical University Sofia, Sofia, Bulgaria.
The primary objective of this study was to examine neurological disorders and cognitive impairments in patients with secondary hypothyroidism and epilepsy undergoing treatment with antiepileptic medications. The study included 184 patients divided into three groups: Group 1 (subclinical hypothyroidism, n = 60), Group 2 (manifest hypothyroidism, n = 64), and Group 3 (control, n = 60). Patients in Group 2 received levothyroxine therapy (initial dose of 25 μg/day, titrated to 50-100 μg/day), while Groups 1 and 2 were treated with anti-seizure medications (valproic acid, 40 mg/kg/day).
View Article and Find Full Text PDFUnsupported walking with only half of the brain due to severe porencephaly.
J Family Med Prim Care
December 2024
Neurology Neurophysiology Center, Vienna, Austria.
A patient with a history of Asian flu, mumps meningo-encephalitis, and skull-base fracture and severe porencephaly who was able to walk without assistance, has not been reported. The patient is a 65 year-old male with a history of Asian flu at 6 months of age, Mumps meningoencephalitis at 6 years of age, structural epilepsy since 15 years of age, traumatic brain injury with skull-base fracture at 51 years of age, arterial hypertension, diabetes, hyperlipidemia, previous alcoholism, and polyneuropathy. He presented with only mild right-sided spastic hemiparesis, dysarthria, decreased tendon reflexes in the lower limbs, spastic-ataxic gait, but he was able to walk unassisted.
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