Treatable inherited metabolic epilepsies

Hundallah, Khalid; Tabarki, Brahim

doi:10.17712/nsj.2021.3.20210077

Cited by 4 publications

(2 citation statements)

References 27 publications

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“…Extensive research has demonstrated that intractable epilepsy is caused by numerous precipitating factors and can produce a great impact on the cognitive mental, psychological, and social functions of childhood with epilepsy (Hwang et al 2019). Seizures might be the prominent feature in inherited metabolic disease (Hundallah and Tabarki 2021).…”

Section: Introductionmentioning

confidence: 99%

Chemical composition and anticonvulsant activities of herb pair of Gastrodia elata Blume-Acorus tatarinowii Schott decoction on experimentally induced seizures in mice

Yang

Yuan

et al. 2023

Metab Brain Dis

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Epilepsy is a serious public health problem in the world. At present, over 30% of affected patients remain refractory to currently available treatment. Medicinal plants as pharmaceuticals and healthcare treatments have been frequently used in the management of epilepsy in China for many centuries. Gastrodia elata-Acous tatarinowii (GEAT), as a classic and most commonly used herb pair in traditional Chinese medicine (TCM), has been employed to control seizures for thousands of years. However, the animal experiment data on its anticonvulsant effect is limited in the literature. Thus, this study aimed to reveal the therapeutic actions of GEAT decoction against seizures in mice. UHPLC-MS/MS was performed to analyze the chemical components of GEAT decoction.The mice were given GEAT decoction for 7 days, and MES, PTZ, and 3-MP injection was given 30 min after the last administration. Video monitoring was performed for comparisons. In addition, the PTZ-induced kindling models were conducted to investigate the seizure severity, anxiety and cognitive pro le, in ammation, and oxidative stress parameters in mice. The results showed that GEAT decoction dose-dependently protected mice against MES, 3-MP, and PTZ-induced acute seizures. Furthermore, GEAT decoction signi cantly ameliorated seizure severity, decreased the accumulation of in ammatory mediators TNF-α, IL-1β, and IL-6, mitigated oxidative stress, as well as alleviated anxious-like behavior and cognitive de cits in PTZ-kindled mice. These results suggest that GEAT decoction possesses certain anticonvulsant properties, which might be clinically useful as phytotherapy alone or as an adjunct therapy for the prevention and treatment of seizures and epilepsy.(model: Heidolph Hei-VAP). The concentrated solution was transferred to a glass bottle and then reserved at 4°C in the ice box. UHPLC-MS/MS analysis of GEAT decoctionUHPLC-MS/MS (Thermo Fisher Scienti c, USA) equipped with an electrospray ionization (ESI) source was applied for the qualitative analysis of phytochemical compounds from GEAT decoction. Chromatographic conditionChromatography was performed on a Zorbax Eclipse C 18 (1.8 µm×2.1 mm×100 mm). The mobile phase A consisted of 0.1% formic acid, and the mobile phase B was acetonitrile. Analysis accomplished by using a gradient elution of 5% B at 0-2 min, 5-30% B at 2-6 min, 30% B at 6-7 min, 30-78% B at 7-12 min, 78% B at 12-14 min, 78-95% B at 14-17 min, 95% B at 17-20 min, 95-5% B at 20-21 min, and 5% B at 21-25 min. The ow rate was 0.3 mL/min. The column temperature was set at 30°C. The injection volume of the sample was 2 µL. Mass spectrometry conditionThe Ion mode was set to positive and negative mode. MS conditions were: Spray voltages: 3.5 kV and -3.5 kV; Capillary temperature: 330°C; Sheath gas: 45 arbs; Aux gas: 15 arb and probe heater temperature: 325°C. Scan mode was full ms. Scanning mode: full scan (Full Scan, m/z 100 ~ 1500) and data-dependent mass spectrometry (dd-MS2, TopN = 10); resolution: 120,000 (MS1) & 60,000 (MS2). Collision Mode: High Energy...

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Section: Introductionmentioning

confidence: 99%

Chemical composition and anticonvulsant activities of herb pair of Gastrodia elata Blume-Acorus tatarinowii Schott decoction on experimentally induced seizures in mice

Yang

Yuan

et al. 2023

Metab Brain Dis

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“…For example, most seizures in newborns are often classified as acute symptomatic seizures and are usually due to a brain injury [ 14 ]. In contrast, neonatal-onset epilepsies are reported in ~12% of newborns with seizures and can be associated with genetic mutations [ 15 , 16 , 17 , 18 , 19 ], brain malformations [ 20 , 21 ], and metabolic disorders [ 22 , 23 ]. Model organisms that are amendable to genetic manipulations, brain imaging, and high-throughput screening of new compounds are critical for discovery of new therapeutics with different properties.…”

Section: Introductionmentioning

confidence: 99%

Aquatic Freshwater Vertebrate Models of Epilepsy Pathology: Past Discoveries and Future Directions for Therapeutic Discovery

Williams¹,

Mruk²

2022

IJMS

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Epilepsy is an international public health concern that greatly affects patients’ health and lifestyle. About 30% of patients do not respond to available therapies, making new research models important for further drug discovery. Aquatic vertebrates present a promising avenue for improved seizure drug screening and discovery. Zebrafish (Danio rerio) and African clawed frogs (Xenopus laevis and tropicalis) are increasing in popularity for seizure research due to their cost-effective housing and rearing, similar genome to humans, ease of genetic manipulation, and simplicity of drug dosing. These organisms have demonstrated utility in a variety of seizure-induction models including chemical and genetic methods. Past studies with these methods have produced promising data and generated questions for further applications of these models to promote discovery of drug-resistant seizure pathology and lead to effective treatments for these patients.

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A Review of the Prevalence, Etiology, Diagnosis, and Management of Pediatric Epilepsies in India

Kalra

Venkataraman

Shah

2022

Journal of Pediatric Neurology

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Pediatric seizures are one of the most common neurological manifestations seen in pediatrics. Unravelling the etiology, timely and appropriate investigations followed by suitable therapies are essential for improving quality of life. During the pandemic, focused group discussions were conducted among 50 pediatric neurologists across five cities in India to gather insights on treatment practices in pediatric epilepsy and to optimize therapeutic strategies and alternative approaches for rational use of antiepileptic medications. These discussions were mainly aimed at reviewing current literature on prevalence, etiology, diagnosis, and management of epilepsy in children and subsequently rationalizing diagnostic and treatment approaches in routine clinical practice. Epileptic encephalopathies comprise of childhood epilepsy with progressive cerebral dysfunction. Genomics plays a vital role in identifying the underlying genetic associations, empowering precision therapy. Currently, the ketogenic diet has become a well-recognized modality for reducing severity of seizures. To overcome the high incidence of adverse effects due to older antiepileptic drugs, newer drugs are being developed to improve ease of use, diminish drug interactions, decrease adverse effects, and identify drugs with unique mechanisms of action. Common lacunae in practice include information gaps, educating parents, or caregivers about rational drug use and ensuring compliance to antiepileptic medications. This article discussed the consensus clinical viewpoint of expert clinicians, as well as insights on optimized treatment of pediatric epilepsies in both infancy and childhood. It also discusses aspects, like reducing drug burden, emerging therapies in the identification of the genetic basis of epilepsies, and targeted therapy alternatives, for pediatric populations in the Indian scenario.

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Treatable inherited metabolic epilepsies

Cited by 4 publications

References 27 publications

Chemical composition and anticonvulsant activities of herb pair of Gastrodia elata Blume-Acorus tatarinowii Schott decoction on experimentally induced seizures in mice

Chemical composition and anticonvulsant activities of herb pair of Gastrodia elata Blume-Acorus tatarinowii Schott decoction on experimentally induced seizures in mice

Aquatic Freshwater Vertebrate Models of Epilepsy Pathology: Past Discoveries and Future Directions for Therapeutic Discovery

A Review of the Prevalence, Etiology, Diagnosis, and Management of Pediatric Epilepsies in India

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