Perampanel: A therapeutic alternative in refractory status epilepticus associated with MELAS syndrome [PDF]
Epilepsy and Behavior Case Reports, 2019 To our knowledge, there are no reports of status epilepticus (SE) associated with mitochondrial diseases and treated with perampanel (PER). We present three cases of patients with refractory SE associated with MELAS syndrome who responded favorably to ...
Estevo Santamarina +8 more
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Temporal bone histopathology in MELAS syndrome [PDF]
Laryngoscope Investigative Otolaryngology, 2020 Objectives Describe the histopathology of the temporal bones in MELAS (myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes) syndrome. The syndrome results from a known point mutation in mitochondrial DNA.
Ophir Handzel +3 more
doaj +6 more sources
Pediatric Neurology Briefs, 1987 Melas syndrome consists of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke.
J Gordon Millichap
doaj +5 more sources
Arginine and Citrulline for the Treatment of MELAS Syndrome [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2017 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disease with a broad spectrum of manifestations.
Ayman W. El-Hattab MD, FACMG +2 more
doaj +6 more sources
Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature [PDF]
Molecular Genetics & Genomic Medicine, 2022 Background Mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes (MELAS) syndrome is one of the most well‐known mitochondrial diseases, with most cases attributed to m.3243A>G.
Lydia M. Seed +5 more
doaj +3 more sources
Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study [PDF]
Orphanet Journal of Rare DiseasesBackround Cardiac involvement has been reported in different mitochondrial geno- and phenotypes, including mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like (MELAS) syndrome.
Dietrich Stoevesandt +3 more
doaj +4 more sources
Unraveling an Unusual Phenocopy of Hypertrophic Cardiomyopathy: MELAS Syndrome [PDF]
Diagnostics, 2021 The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is an uncommon cause of cardiac hypertrophy, fibrosis, and dysfunction.
Anna B. Reid +3 more
doaj +3 more sources
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure [PDF]
Biomedicines, 2022 (1) Background: The development of mitochondrial medicine has been severely impeded by a lack of effective therapies. (2) Methods: To better understand Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-like episodes (MELAS) syndrome, neuronal ...
Sophie Belal +23 more
doaj +4 more sources
Arrhythmia as a cardiac manifestation in MELAS syndrome
Molecular Genetics and Metabolism Reports, 2015 A 44-year-old female with a diagnosis of mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS) syndrome had progressive left ventricular hypertrophy (LVH) on echocardiogram. A Holter monitor demonstrated episodes of non-sustained atrial
Tamara Thomas +4 more
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Fahr’s syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report [PDF]
Frontiers in GeneticsThis study reported a case of MELAS syndrome presenting as the initial imaging characteristics of Fahr’s syndrome with “near” sudden unexpected death in epilepsy (SUDEP) and lateralized periodic discharges (LPD).
Yan Zheng +7 more
doaj +4 more sources