Joerg Klepper
A5071391727- Diet and metabolism studies
- Metabolism and Genetic Disorders
- Metabolism, Diabetes, and Cancer
- Diet, Metabolism, and Disease
- Glycogen Storage Diseases and Myoclonus
- Amino Acid Enzymes and Metabolism
- Epilepsy research and treatment
- Genomics and Rare Diseases
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- interferon and immune responses
- Neuroscience and Neuropharmacology Research
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Pancreatic function and diabetes
- Neurological disorders and treatments
- Thyroid and Parathyroid Surgery
- Neuroendocrine Tumor Research Advances
- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Ion channel regulation and function
- Inflammasome and immune disorders
- Digestive system and related health
- Cancer, Hypoxia, and Metabolism
Klinikum Aschaffenburg
2015-2024
Research Network (United States)
2023
Boston Children's Hospital
2011-2014
Radboud University Nijmegen
2013
Radboud University Medical Center
2013
Children's Hospital
2008
Essen University Hospital
2006
Universitätskinderklinik
2001-2004
Mayo Clinic in Florida
2004
Summary Ketogenic dietary therapies ( KDTs ) are established, effective nonpharmacologic treatments for intractable childhood epilepsy. For many years were implemented differently throughout the world due to lack of consistent protocols. In 2009, an expert consensus guideline management children on KDT was published, focusing topics patient selection, pre‐ counseling and evaluation, diet choice attributes, implementation, supplementation, follow‐up, side events, discontinuation. It has been...
The ketogenic diet (KD) is an established, effective nonpharmacologic treatment for intractable childhood epilepsy. KD provided differently throughout the world, with occasionally significant variations in its administration. There exists a need more standardized protocols and management recommendations clinical research use. In December 2006, Charlie Foundation commissioned panel comprised of 26 pediatric epileptologists dietitians from nine countries particular expertise using KD. This...
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with spectrum of epilepsies and neurodevelopmental disorders. Here, we report phenotypes 71 patients review 130 previously reported patients. We found that (i) encephalopathies infantile/childhood onset (≥3 months age) occur almost as often those an early infantile (<3 months), are thus more frequent than reported; (ii) distinct can be seen within late group, including myoclonic-atonic epilepsy...
Glut1 deficiency syndrome (Glut1DS) is a brain energy failure caused by impaired glucose transport across tissue barriers. Glucose diffusion barriers facilitated family of proteins including transporter type 1 (Glut1). Patients are treated effectively with ketogenic diet therapies (KDT) that provide supplemental fuel, namely ketone bodies, for metabolism. The increasing complexity Glut1DS, since its original description in 1991, now demands an international consensus statement regarding...
Polymicrogyria is the most commonly diagnosed cortical malformation and associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, cognitive deficits. frequently co-occurs other brain malformations or as part of syndromic diseases. Past studies polymicrogyria have defined heterogeneous genetic nongenetic causes but explained only a small fraction cases.
Familial idiopathic basal ganglia calcification (IBGC, Fahr disease) is an inherited neurologic condition characterized by and extra-basal brain calcifications, parkinsonism, neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. found evidence against IBGC1 in five of supporting previous preliminary studies demonstrating heterogeneity familial IBGC.
The classical ketogenic diet has been used for refractory childhood epilepsy decades. It is also the treatment of choice disorders brain energy metabolism, such as Glut1 deficiency syndrome. Novel diets modified Atkins and low glycemic index have significantly improved therapeutic options dietary treatment. Benefits these novel are increased palatability, practicability, thus compliance—at expense lower ketosis. As high ketones appear essential to meet deficit caused by syndrome, use in this...
The manuscript serves as an update on the current management practices for infantile spasm syndrome (ISS). It includes a detailed summary of level evidence different treatment options ISS and gives recommendations care patients with ISS.A literature search was performed using Cochrane Medline Databases (2014 to July 2020). All studies were objectively rated Scottish Intercollegiate Guidelines Network. For recommendations, from these combined used in 2014 guideline.If is suspected,...
Glut1 Deficiency (Glut1D) is caused by impaired glucose transport into brain. The resulting epileptic encephalopathy and movement disorders can be treated effectively high-fat carbohydrate-restricted ketogenic diet therapies (KDT) mimicking fasting providing ketones as an alternative cerebral fuel. Recently 6-24 months follow-ups of patients reported elevated blood lipids intima thickening the carotid artery raising concerns about potential cardiovascular risks KDT. To clarify we performed a...
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by a defect in glucose transport across the blood–brain barrier. The main symptoms are epilepsy, developmental delay, movement disorders, and deceleration of head circumference. A ketogenic diet has been shown to be effective controlling epilepsy GLUT1-DS. We report female child (3y 4mo) who presented with delayed psychomotor development frequent episodes staggering, impaired vigilance, vomiting that resolved promptly after...