Joerg Klepper Selected Research

Glut1 Deficiency Syndrome

9/2020	Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
1/2017	Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.
10/2015	GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases?
12/2013	Child neurology: differential diagnosis of a low CSF glucose in children and young adults.
8/2013	Glut1 deficiency syndrome and novel ketogenic diets.
1/2013	Glucide metabolism disorders (excluding glycogen myopathies).
10/2012	Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.
7/2012	GLUT1 deficiency syndrome in clinical practice.
12/2011	Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy.
6/2011	Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene.

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Joerg Klepper Research Topics

Disease

12	Glut1 Deficiency Syndrome 09/2020 - 09/2007
12	Epilepsy (Aura) 06/2018 - 09/2007
4	Movement Disorders (Movement Disorder) 12/2018 - 09/2007
2	Brain Diseases (Brain Disorder) 12/2018 - 09/2007
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2018 - 02/2013
2	Infections 01/2017 - 08/2006
2	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2017 - 10/2012
1	Rolandic Epilepsy (Centrotemporal Epilepsy) 03/2018
1	Chondrodysplasia Punctata (Stippled Epiphyses) 01/2018
1	Cicatrix (Scar) 01/2018
1	Blister (Bulla) 01/2018
1	Erythema elevatum diutinum 01/2018
1	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 01/2018
1	Inflammation (Inflammations) 01/2018
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 01/2018
1	Hyperpigmentation 01/2018
1	X-Linked Ichthyosis (Ichthyosis, X Linked) 01/2018
1	Mucopolysaccharidoses 01/2018
1	Necrosis 01/2018
1	Neurodevelopmental Disorders 05/2017
1	Generalized Epilepsy 01/2017
1	Infantile Spasms (West Syndrome) 01/2017
1	Status Epilepticus (Complex Partial Status Epilepticus) 01/2017
1	Epileptic Syndromes 01/2017
1	Ketosis 11/2016
1	Sleep Deprivation 11/2016
1	Drug Resistant Epilepsy 11/2016
1	Seizures (Absence Seizure) 04/2016
1	Hypertriglyceridemia 04/2016
1	Nervous System Diseases (Neurological Disorders) 12/2013
1	Fahr's disease 02/2013
1	Hypoglycemia (Reactive Hypoglycemia) 01/2013
1	Muscular Diseases (Myopathy) 01/2013
1	Glycogen Storage Disease (Glycogenosis) 01/2013
1	Muscle Cramp (Cramp) 01/2013
1	Dystonia 18 01/2013
1	Pseudohyperkalemia Cardiff 01/2013
1	Cushing Syndrome 10/2012
1	Fatty Liver 10/2012
1	Microcephaly 05/2011
1	Intellectual Disability (Idiocy) 03/2010

Drug/Important Bio-Agent (IBA)

10	Glucose (Dextrose)FDA LinkGeneric 09/2020 - 09/2007
4	Anticonvulsants (Antiepileptic Drugs)IBA 05/2017 - 09/2007
3	CarbohydratesIBA 12/2018 - 12/2011
2	KetonesIBA 12/2018 - 08/2013
2	sulthiame (sultiam)IBA 03/2018 - 04/2016
2	Pharmaceutical PreparationsIBA 01/2017 - 11/2016
1	Levetiracetam (Keppra)FDA LinkGeneric 03/2018
1	SulfatasesIBA 01/2018
1	EnzymesIBA 01/2018
1	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2018
1	Immunoglobulin A (IgA)IBA 01/2018
1	Sodium Channel BlockersIBA 05/2017
1	Voltage-Gated Sodium ChannelsIBA 05/2017
1	Sodium Channels (Sodium Channel)IBA 05/2017
1	SodiumIBA 05/2017
1	Biomarkers (Surrogate Marker)IBA 01/2017
1	Triglycerides (Triacylglycerol)IBA 04/2016
1	LipidsIBA 04/2016
1	CalciumIBA 02/2013
1	GlycogenIBA 01/2013
1	SteroidsIBA 10/2012
1	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 10/2012
1	Ribonucleases (Ribonuclease)IBA 08/2006

Therapy/Procedure

13	Ketogenic Diet 12/2018 - 02/2009
4	Therapeutics 12/2018 - 10/2015
1	Skin Transplantation (Skin Grafting) 01/2018
1	Enzyme Replacement Therapy 01/2013