Metabolic epilepsy: An update

2013 ◽  
Vol 35 (9) ◽  
pp. 827-841 ◽  
Author(s):  
Laura Papetti ◽  
Pasquale Parisi ◽  
Vincenzo Leuzzi ◽  
Francesca Nardecchia ◽  
Francesco Nicita ◽  
...  
Keyword(s):  
Metabolic Epilepsy

Metabolic epilepsy in hyperprolinemia type II due to a novel nonsense ALDH4A1 gene variant

2021 ◽  
Author(s):  
Rajdeep Kaur ◽  
Pradip Paria ◽  
Arushi Gahlot Saini ◽  
Renu Suthar ◽  
Vikas Bhatia ◽  
...  
Keyword(s):  
Type Ii ◽  
Gene Variant ◽  
Metabolic Epilepsy ◽  
Hyperprolinemia Type Ii

scholarly journals Characteristics of seizure frequency among Malaysian children diagnosed with structural– metabolic epilepsy

2012 ◽  
Vol 03 (03) ◽  
pp. 244-250 ◽  
Author(s):  
Muhannad RM Salih ◽  
Mohd Baidi Bahari ◽  
Mohamed Azmi Ahmad Hassali ◽  
Asrul Akmal Shafie ◽  
Omer Qutaiba B Al-lela ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Seizure Frequency ◽  
Substantial Reduction ◽  
Focal Seizure ◽  
Global Developmental Delay ◽  
Neurology Clinic ◽  
Collection Form ◽  
Metabolic Epilepsy

ABSTRACT Introduction: Seizure-free patients or substantial reduction in seizure frequency are the most important outcome measures in the management of epilepsy. The study aimed to evaluate the patterns of seizure frequency and its relationship with demographics, clinical characteristics, and outcomes. Materials and Methods: A retrospective cohort study was conducted at the Pediatric Neurology Clinic, Hospital Pulau Pinang. Over a period of 6 months, the required data were extracted from the medical records using a pre-designed data collection form. Results: Seizure frequency showed no significant association with patient’s demographics and clinical characteristic. However, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability, and patients with focal seizure. There was no significant association between seizure frequency and rate of adverse events. Polytherapy visits were associated with higher seizure frequency than monotherapy visits (27.97 ± 56.66, 10.94 ± 30.96 attack per month, respectively) (P < 0.001). There was a clear tendency to get antiepileptic drugs used at doses above the recommended range in polytherapy (8.4%) rather than in monotherapy (1.4%) visits (P < 0.001). A significant correlation was found between seizure frequency and number of visits per patient per year (r = 0.450, P < 0.001). Conclusion: Among children with structural–metabolic epilepsy, Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability and patients manifested with focal seizure are more responsive antiepileptic drug therapy than the other subgroups of patients.

scholarly journals PND6 Economic Burden of Structural-Metabolic Epilepsy in Malaysia

2012 ◽  
Vol 15 (7) ◽  
pp. A676
Author(s):  
M. Salih ◽  
M.B. Bahari ◽  
A. Shafie ◽  
M.A.A. Hassali ◽  
O.Q.B. Al-lela ◽  
...  
Keyword(s):  
Economic Burden ◽  
Metabolic Epilepsy

scholarly journals Animal Models of Metabolic Epilepsy and Epilepsy Associated Metabolic Dysfunction: A Systematic Review

2020 ◽  
Vol 13 (6) ◽  
pp. 106
Author(s):  
Uday Praful Kundap ◽  
Yam Nath Paudel ◽  
Mohd. Farooq Shaikh
Keyword(s):  
Systematic Review ◽  
Animal Model ◽  
Animal Models ◽  
Glucose Transporter ◽  
Evaluation Methods ◽  
Metabolic Dysfunction ◽  
Α Subunit ◽  
Glucose Transporter 1 ◽  
Suitable Animal Model ◽  
Metabolic Epilepsy

Epilepsy is a serious neurological disorder affecting around 70 million people globally and is characterized by spontaneous recurrent seizures. Recent evidence indicates that dysfunction in metabolic processes can lead to the alteration of neuronal and network excitability, thereby contributing to epileptogenesis. Developing a suitable animal model that can recapitulate all the clinical phenotypes of human metabolic epilepsy (ME) is crucial yet challenging. The specific environment of many symptoms as well as the primary state of the applicable neurobiology, genetics, and lack of valid biomarkers/diagnostic tests are the key factors that hinder the process of developing a suitable animal model. The present systematic review summarizes the current state of available animal models of metabolic dysfunction associated with epileptic disorders. A systematic search was performed by using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) model. A range of electronic databases, including google scholar, Springer, PubMed, ScienceDirect, and Scopus, were scanned between January 2000 and April 2020. Based on the selection criteria, 23 eligible articles were chosen and are discussed in the current review. Critical analysis of the selected literature delineated several available approaches that have been modeled into metabolic epilepsy and pointed out several drawbacks associated with the currently available models. The result describes available models of metabolic dysfunction associated with epileptic disorder, such as mitochondrial respiration deficits, Lafora disease (LD) model-altered glycogen metabolism, causing epilepsy, glucose transporter 1 (GLUT1) deficiency, adiponectin responsive seizures, phospholipid dysfunction, glutaric aciduria, mitochondrial disorders, pyruvate dehydrogenase (PDH) α-subunit gene (PDHA1), pyridoxine dependent epilepsy (PDE), BCL2-associated agonist of cell death (BAD), Kcna1 knock out (KO), and long noncoding RNAs (lncRNA) cancer susceptibility candidate 2 (lncRNA CASC2). Finally, the review highlights certain focus areas that may increase the possibilities of developing more suitable animal models and underscores the importance of the rationalization of animal models and evaluation methods for studying ME. The review also suggests the pressing need of developing precise robust animal models and evaluation methods for investigating ME.

scholarly journals Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review

2018 ◽  
Vol 19 (3) ◽  
pp. 871 ◽  
Author(s):  
Vanessa Lin Lin Lee ◽  
Brandon Kar Meng Choo ◽  
Yin-Sir Chung ◽  
Uday P. Kundap ◽  
Yatinesh Kumari ◽  
...  
Keyword(s):  
Systematic Review ◽  
Metabolic Epilepsy

scholarly journals Phenome-wide examination of comorbidity burden and multiple sclerosis disease severity

2020 ◽  
Vol 7 (6) ◽  
pp. e864
Author(s):  
Tingting Zhang ◽  
Matthew Goodman ◽  
Feng Zhu ◽  
Brian Healy ◽  
Robert Carruthers ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Medical Condition ◽  
Benign Neoplasm ◽  
International Classification Of Diseases ◽  
Multiple Sclerosis Disease ◽  
Comorbidity Burden ◽  
Disability Status ◽  
Bidirectional Relationship ◽  
Classification Of Diseases ◽  
Metabolic Epilepsy

ObjectiveWe assessed the comorbidity burden associated with multiple sclerosis (MS) severity by performing a phenome-wide association study (PheWAS).MethodsWe conducted a PheWAS in 2 independent cohorts: a discovery (Boston, United States; 1993–2014) and extension cohort (British Columbia, Canada; 1991–2008). We included adults with MS, ≥1 Expanded Disability Status Scale (EDSS) score, and ≥1 International Classification of Diseases (ICD) code other than MS. We calculated the Multiple Sclerosis Severity Score (MSSS) using the EDSS. We mapped ICD codes into PheCodes (phenotypes), using a published system with each PheCode representing a unique medical condition. Association between the MSSS and the presence of each condition was assessed using logistic regression adjusted for covariates.ResultsThe discovery and extension cohorts included 3,439 and 4,876 participants, respectively. After Bonferroni correction and covariate adjustments, a higher MSSS was associated with 37 coexisting conditions in the discovery cohort. Subsequently, 16 conditions, including genitourinary, infectious, metabolic, epilepsy, and movement disorders, met the reporting criteria, reaching the Bonferroni threshold of significance with the same direction of effect in the discovery and extension cohort. Notably, benign neoplasm of the skin was inversely associated with the MSSS.ConclusionThe phenome-wide approach enabled a systematic interrogation of the comorbidity burden and highlighted clinically relevant medical conditions associated with MS severity (beyond MS-specific consequences) and defines a roadmap for comprehensive investigation of comorbidities in chronic neurologic diseases. Further prospective investigation of the bidirectional relationship between disability and comorbidities could inform the individualized patient management.

Metabolic Epilepsy

2020 ◽  
Author(s):  
Chaithanya Reddy ◽  
Arushi Gahlot Saini
Keyword(s):  
Metabolic Epilepsy

Practices Associated with Serum Antiepileptic Drug Level Monitoring at a Pediatric Neurology Clinic

2012 ◽  
Vol 26 (3) ◽  
pp. 192-197 ◽  
Author(s):  
Muhannad R. M. Salih ◽  
Mohd. Baidi Bahari ◽  
Mohamed Azmi Ahmad Hassali ◽  
Asrul Akmal Shafie ◽  
Omer Qutaiba B. Al-lela ◽  
...  
Keyword(s):  
Medical Records ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Drug Level ◽  
Therapeutic Drug ◽  
Neurology Clinic ◽  
Metabolic Epilepsy ◽  
Drug Level Monitoring ◽  
Level Monitoring ◽  
Check Level

Objectives: To assess the practices associated with the application of therapeutic drug monitoring (TDM) for antiepileptic drugs (AEDs) in the management of children with structural–metabolic epilepsy. Methods: It was a retrospective chart review and included children aged ≥2 years old with structural–metabolic epilepsy, treated with AEDs, and received TDM. The data were extracted from the medical records. Results: Thirty-two patients were identified with 50 TDM assays. In two thirds of the assays, “check level” and “recheck level” were the reasons behind the requesting of serum level monitoring of AEDs. Knowledge of serum AED levels led to alterations in the management in 60% of the assays. Thirty-two (76%) pediatrician’s actions were consistent with the recommendation of TDM pharmacist. Forty-nine (98%) levels were appropriately indicated. In relation to the appropriateness of sampling time, 9 (18%) levels were not assessed due to missing data. Twenty-seven (54%) levels were appropriately sampled. Conclusions: More studies should be designed to improve the component of the current TDM request form, especially in the reason section. By the same token, the number of pointless assays and the costs to the health care system can be reduced both by enhancing and improving the educational standards of the requesting neurologists

ADSL Deficiency – The Lesser-Known Metabolic Epilepsy in Infancy

2020 ◽  
Author(s):  
Arundhati Banerjee ◽  
Vikas Bhatia ◽  
Gunjan Didwal ◽  
Arvind Kumar Singh ◽  
Arushi Gahlot Saini
Keyword(s):  
Metabolic Epilepsy
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