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The effects of coronavirus disease 2019 (COVID-19) pandemic on people with epilepsy (PwE): an online survey-based study
During the unprecedented COVID-19 pandemic in 2020, the whole world faced an unusual health emergency. Medical care of chronic neurological diseases,...
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Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa
Next generation sequencing (NGS)-based tests have become routine first-line investigative modalities in paediatric neurology clinics in many...
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Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease
Lafora disease is a fatal form of progressive myoclonic epilepsy caused by mutations in the EPM2A or NHLRC1 / EPM2B genes that usually appears during...
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Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
Biallelic SHQ1 variant-related neurodevelopmental disorder is extremely rare. To date, only six affected individuals, from four families, have been...
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Targeted Inhibition of Upregulated Sodium-Calcium Exchanger in Rat Inferior Colliculus Suppresses Alcohol Withdrawal Seizures
The inferior colliculus (IC) is critical in initiating acoustically evoked alcohol withdrawal-induced seizures (AWSs). Recently, we reported that...
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Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy
Mutations in the KCNQ2 gene encoding K V 7.2 subunit that mediates neuronal M-current cause a severe form of developmental and epileptic encephalopathy...
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Ring Chromosome 9
Ring chromosome 9 (RC9) is a rare structural chromosome abnormality. Karyoty**, fluorescence in situ hybridization (FISH), chromosome microarray...
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Expanding Indications for a Ketogenic Diet as an Adjuvant Therapy in Adult Refractory Status Epilepticus: an Exploratory Study Using Moderation Analysis
Refractory status epilepticus (RSE) requires multimodal treatment approaches to achieve rapid seizure cessation and neuroprotection. A ketogenic diet...
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Polypharmacology in Clinical Applications: Neurological Polypharmacology
Neurological disorders include diverse subgroups, including neuromuscular diseases, genetic and metabolic disorders, developmental delay, traumatic...
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ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein
ARV1 mutation is known to present as developmental and epileptic encephalopathy (DEE)-38. However, the phenotypic spectrum has been expanding ever...
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Cannabidiol Therapy for Refractory Epilepsy and Seizure Disorders
Cannabis-derived cannabinoids have neuroactive properties. Recently, there has been emerging interest in the use of cannabidiol (CBD)-enriched...
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Therapeutic potential of Bergenin in the management of neurological-based diseases and disorders
Originally sourced from plants, Bergenin has been used as a medicinal compound in traditional medicine for centuries, and anecdotal reports suggest a...
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Cardiovascular responses of adult male Sprague–Dawley rats following acute organophosphate intoxication and post-exposure treatment with midazolam with or without allopregnanolone
Recent experimental evidence suggests combined treatment with midazolam and allopregnanolone is more effective than midazolam alone in terminating...
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Post-traumatic Epilepsy and Neuropsychiatric Comorbidities
Post-traumatic epilepsy (PTE) is a form of acquired epilepsy that arises from traumatic brain injury (TBI). It presents a complex relationship with...
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Epilepsy and Prediction Devices
The unpredictable nature of epileptic seizures poses a significant challenge that can be effectively addressed through the development of a reliable...
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Familial adult myoclonus epilepsy: a pragmatic approach
Familial Adult Myoclonus Epilepsy (FAME), with a prevalence of < 1/35 000, is known under different acronyms. The disease is transmitted in an...
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Drug Transporters
Membrane transporters play a central role in protecting the body from xenobiotics (either by preventing their absorption, limiting their...
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Blood Flow Distribution and Membrane Transporters as Determinant Factors of Tissue Drug Concentration
The free drug hypothesis states that the non-ionized free drug concentrations will have the same value in all the aqueous spaces of the body, once...