Omar Hikmat
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View article: Programming in Vagus nerve stimulation therapy: Consensus from a Nordic Delphi Panel
Programming in Vagus nerve stimulation therapy: Consensus from a Nordic Delphi Panel Open
The recommendations of the Delphi panel emphasize proactive deployment of available stimulation options including build up in duty cycle and the use of rapid cycling as well as increasing the output current if response with primary target …
View article: Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey Open
Primary mitochondrial diseases (PMD) account for a group of approximately 400 different genetic disorders with diverse clinical presentations and pathomechanisms. Although each individual disorder is rare, collectively they represent one o…
View article: Refractory and super-refractory status epilepticus in children and adolescents: A population-based study
Refractory and super-refractory status epilepticus in children and adolescents: A population-based study Open
Delays in treatment were observed in various stages of the clinical course of RSE/SRSE. Improvement measures targeting the prompt administration of recuse mediation and subsequent treatment escalation are needed.
View article: Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study Open
Objective To investigate the prevalence and natural history of POLG disease in the Norwegian population. Methods A national, population‐based, retrospective study using demographic, clinical, and genetic data of patients with genetically c…
View article: Status epilepticus in POLG disease: a large multinational study
Status epilepticus in POLG disease: a large multinational study Open
We aimed to provide a detailed phenotypic description of status epilepticus (SE) in a large cohort of patients with POLG disease and identify prognostic biomarkers to improve the management of this life-threatening condition. In a multinat…
View article: Management of seizures in patients with primary mitochondrial diseases: consensus statement from the <scp>InterERNs</scp> Mitochondrial Working Group
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the <span>InterERNs</span> Mitochondrial Working Group Open
Background and purpose Primary mitochondrial diseases (PMDs) are common inborn errors of energy metabolism, with an estimated prevalence of one in 4300. These disorders typically affect tissues with high energy requirements, including hear…
View article: Mitokondriesykdom forårsaket av m.3243A>G-mutasjonen
Mitokondriesykdom forårsaket av m.3243A>G-mutasjonen Open
Mitochondrial disease is among the most commonly occurring metabolic disorders and is relevant for many medical specialties. This clinical review article discusses one of the most common mutations causing mitochondrial disease, namely m.32…
View article: Renal Phenotype in Mitochondrial Diseases: A Multicenter Study
Renal Phenotype in Mitochondrial Diseases: A Multicenter Study Open
Aims: This study aimed to investigate associations between renal and extrarenal manifestations of mitochondrial diseases and their natural history as well as predictors of renal disease severity and overall disease outcome. T…
View article: Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study Open
Background Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause of mitochondrial disease and give rise to a wide range of clinical features. Lack of longitudinal data means the natural history remains unclear. This stud…
View article: Expanding the phenotypic spectrum of <i>BCS1L</i>‐related mitochondrial disease
Expanding the phenotypic spectrum of <i>BCS1L</i>‐related mitochondrial disease Open
Objective To delineate the full phenotypic spectrum of BCS1L‐ related disease, provide better understanding of the genotype–phenotype correlations and identify reliable prognostic disease markers. Methods We performed a retrospective multi…
View article: A characteristic occipital epileptiform EEG pattern in ADCK3‐related mitochondrial disease
A characteristic occipital epileptiform EEG pattern in ADCK3‐related mitochondrial disease Open
Objective . ADCK3‐related disease is a mitochondrial disorder associated with an abnormality of coenzyme Q 10 metabolism. Ataxia and epilepsy are common, and the phenotype overlaps with other mitochondrial encephalopathies, particularly PO…
View article: Serum biomarkers in primary mitochondrial disorders
Serum biomarkers in primary mitochondrial disorders Open
The aim of this study was to explore the utility of the serum biomarkers neurofilament light chain, fibroblast growth factor 21 and growth and differentiation factor 15 in diagnosing primary mitochondrial disorders. We measured serum neuro…
View article: The phenotypic spectrum of polymerase gamma (POLG) disease from birth to late adulthood
The phenotypic spectrum of polymerase gamma (POLG) disease from birth to late adulthood Open
Variants in POLG, the gene encoding the catalytic subunit of DNA-polymerase gamma (polγ), the enzyme that replicates and repairs the mitochondrial genome, are among the most common causes of inherited mitochondrial disease. The clinical ph…
View article: Mental health and health related quality of life in mitochondrial POLG disease
Mental health and health related quality of life in mitochondrial POLG disease Open
View article: The impact of gender, puberty, and pregnancy in patients with POLG disease
The impact of gender, puberty, and pregnancy in patients with POLG disease Open
Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods Clinical, laboratory, and genetic data were collected retrospectively from 155 …
View article: Diagnostic value of serum biomarkers <scp>FGF21</scp> and <scp>GDF15</scp> compared to muscle sample in mitochondrial disease
Diagnostic value of serum biomarkers <span>FGF21</span> and <span>GDF15</span> compared to muscle sample in mitochondrial disease Open
The aim of this study was to compare the value of serum biomarkers, fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15), with histological analysis of muscle in the diagnosis of mitochondrial disease. We collec…
View article: Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases Open
Summary Background Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in everyday clinic…
View article: Polymerase gamma-relatert mitokondriesykdom
Polymerase gamma-relatert mitokondriesykdom Open
DNA Polymerase gamma (POLG) is an enzyme that replicates and repairs mitochondrial DNA. Mutations in the gene that codes for the catalytic subunit of the enzyme, the POLG gene, are one of the most common causes of mitochondrial disease. PO…
View article: Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations
Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations Open
View article: Elevated cerebrospinal fluid protein in <i><scp>POLG</scp></i>‐related epilepsy: Diagnostic and prognostic implications
Elevated cerebrospinal fluid protein in <i><span>POLG</span></i>‐related epilepsy: Diagnostic and prognostic implications Open
Summary Objective Epilepsy is common in individuals with mutations in POLG , the gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma. Early recognition and aggressive seizure management are crucial for patient sur…
View article: Legers rolle ved mistanke om alvorlig barnemishandling
Legers rolle ved mistanke om alvorlig barnemishandling Open
View article: Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases
Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases Open
Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1 . Methods This multicenter study addressed the course of disease for ea…
View article: Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease Open
J Inherit Metab Dis. 10.1007/s10545-017-0084-97 Owing to an unfortunate oversight, the given and family name of one of the co-authors were interchanged in the manuscript submitted. Tzoulis Charalampos should read Charalampos Tzoulis. The a…
View article: Understanding the Epilepsy in POLG Related Disease
Understanding the Epilepsy in POLG Related Disease Open
Epilepsy is common in polymerase gamma (POLG) related disease and is associated with high morbidity and mortality. Epileptiform discharges typically affect the occipital regions initially and focal seizures, commonly evolving to bilateral …
View article: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations Open
View article: <i><scp>ADCK</scp>3</i> mutations with epilepsy, stroke‐like episodes and ataxia: a <scp>POLG</scp> mimic?
<i><span>ADCK</span>3</i> mutations with epilepsy, stroke‐like episodes and ataxia: a <span>POLG</span> mimic? Open
Background and purpose Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK 3 is one of several genes associated with CoQ10 deficiency that presents with pr…