Barbara Plecko Selected Research

Brain Diseases (Brain Disorder)

1/2021	Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
1/2021	Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy.
1/2021	TPK1 Deficiency-A Vitamin-Responsive Encephalopathy with a Suggestive MRI Pattern.
1/2019	Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
1/2019	Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
12/2017	Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
1/2016	Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
1/2016	The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
12/2011	Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?
9/2011	Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

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Barbara Plecko Research Topics

Disease

15	Epilepsy (Aura) 12/2023 - 08/2009
14	Seizures (Absence Seizure) 01/2021 - 01/2007
12	Brain Diseases (Brain Disorder) 01/2021 - 11/2003
8	Pyridoxine-dependent epilepsy 01/2021 - 03/2006
7	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 01/2023 - 08/2009
4	Intellectual Disability (Idiocy) 01/2019 - 01/2016
4	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 02/2010 - 05/2004
3	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2023 - 08/2009
3	Hypophosphatasia 01/2023 - 01/2019
3	Dystonia (Limb Dystonia) 11/2020 - 01/2017
3	Vitamin B 6 Deficiency (Pyridoxine Deficiency) 12/2011 - 08/2009
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2023 - 01/2016
2	Ataxia (Dyssynergia) 01/2022 - 01/2016
2	Muscular Diseases (Myopathy) 01/2022 - 11/2002
2	Neurodevelopmental Disorders 01/2021 - 11/2020
2	Phenylketonurias (Phenylketonuria) 01/2021 - 01/2013
2	Status Epilepticus (Complex Partial Status Epilepticus) 04/2014 - 12/2011
2	Hyperprolinemia type 2 01/2013 - 08/2009
2	Infantile Hypophosphatasia 09/2011 - 08/2009
2	Fabry Disease (Fabry's Disease) 05/2011 - 01/2005
2	Kidney Diseases (Kidney Disease) 05/2011 - 01/2005
2	Neutropenia 05/2004 - 11/2002
2	Barth Syndrome 05/2004 - 11/2002
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 03/2023
1	Addison Disease (Addison's Disease) 03/2023
1	Disease Progression 01/2023
1	Metabolic Diseases (Metabolic Disease) 01/2023
1	Inflammation (Inflammations) 01/2023
1	Mucopolysaccharidoses 10/2022
1	Rett Syndrome (Rett's Disorder) 03/2022
1	Rare Diseases (Rare Disease) 03/2022
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2022
1	Adenoma (Adenomas) 01/2022
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2022
1	Myoclonus (Nocturnal Myoclonus) 01/2022
1	Parkinsonian Disorders (Parkinsonism) 01/2022
1	Anti-N-Methyl-D-Aspartate Receptor Encephalitis 10/2021
1	Drug Resistant Epilepsy 07/2021
1	Neurologic Manifestations (Neurological Manifestations) 01/2021
1	Fatty Acid Hydroxylase-Associated Neurodegeneration 01/2019
1	Hereditary Spastic Paraplegia 01/2019
1	Autism Spectrum Disorder 01/2019

Drug/Important Bio-Agent (IBA)

14	Pyridoxine (Pyridoxin)FDA LinkGeneric 12/2023 - 01/2007
12	Oxidoreductases (Dehydrogenase)IBA 01/2023 - 03/2006
9	Vitamin B 6IBA 01/2023 - 01/2007
7	EnzymesIBA 01/2023 - 05/2014
5	PyridoxalIBA 12/2023 - 04/2014
5	Biomarkers (Surrogate Marker)IBA 01/2023 - 04/2014
4	Proteins (Proteins, Gene)FDA Link 12/2023 - 01/2019
4	VitaminsIBA 01/2023 - 02/2014
4	Lysine (L-Lysine)FDA Link 01/2023 - 01/2014
4	Leucovorin (Folinic Acid)FDA Link 07/2021 - 05/2009
4	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 02/2010 - 05/2004
3	Phosphates (Orthophosphate)IBA 01/2019 - 08/2009
2	Neurotransmitter Agents (Neurotransmitter)IBA 01/2023 - 01/2019
2	Amino Acids FDA Link 01/2023 - 01/2019
2	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 01/2023 - 01/2019
2	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2021 - 01/2013
2	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 01/2021 - 01/2013
2	Alkaline PhosphataseIBA 01/2021 - 01/2016
2	purineIBA 11/2020 - 01/2017
2	Nonsense Codon (Nonsense Mutation)IBA 01/2018 - 03/2014
2	DNA (Deoxyribonucleic Acid)IBA 01/2016 - 06/2014
2	Anticonvulsants (Antiepileptic Drugs)IBA 04/2014 - 01/2007
2	globotriaosylceramide (globotriosylceramide)IBA 05/2011 - 01/2005
2	Protein Isoforms (Isoforms)IBA 05/2011 - 01/2005
2	allysineIBA 05/2009 - 03/2006
1	Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA 12/2023
1	NucleotidesIBA 03/2023
1	ATP-Binding Cassette Transporters (ABC Transporters)IBA 03/2023
1	Member 1 Subfamily D ATP Binding Cassette TransporterIBA 03/2023
1	Messenger RNA (mRNA)IBA 03/2023
1	LipidsIBA 01/2023
1	ArylsulfatasesIBA 10/2022
1	Methyl-CpG-Binding Protein 2IBA 03/2022
1	nusinersenIBA 01/2022
1	ZolgensmaIBA 01/2022
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 01/2022
1	Dihydroxyphenylalanine (Dopa)IBA 01/2022
1	Ion Channels (Ion Channel)IBA 01/2022
1	Triglycerides (Triacylglycerol)IBA 01/2022
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2022
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 10/2021
1	AutoantibodiesIBA 10/2021
1	Protein Phosphatase 2 (Protein Phosphatase 2A)IBA 01/2021
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2021
1	Proline (L-Proline)FDA Link 01/2020
1	pipecolic acidIBA 01/2020
1	CreatineIBA 01/2020
1	pyrrolineIBA 01/2020
1	glycocyamineIBA 01/2020
1	NAV1.2 Voltage-Gated Sodium ChannelIBA 01/2019
1	Aminobutyrates (Aminobutyric Acid)IBA 01/2019
1	Carrier Proteins (Binding Protein)IBA 01/2019
1	IronIBA 01/2019

Therapy/Procedure

7	Therapeutics 01/2022 - 01/2013
6	Enzyme Replacement Therapy 01/2021 - 05/2004
2	Hematopoietic Stem Cell Transplantation 11/2014 - 10/2013
1	Precision Medicine 01/2023
1	Ketogenic Diet 07/2021