Tjitske Kleefstra Selected Research

Complex Partial Epilepsy (Psychomotor Epilepsy)

1/2019

A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?

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Tjitske Kleefstra Research Topics

Disease

31	Intellectual Disability (Idiocy) 01/2021 - 01/2004
14	Neurodevelopmental Disorders 10/2022 - 04/2014
9	Kleefstra Syndrome 10/2019 - 07/2012
5	Epilepsy (Aura) 01/2021 - 01/2010
4	Muscle Hypotonia (Hypotonia) 01/2018 - 02/2014
4	X-Linked Mental Retardation (Mental Retardation, X Linked) 09/2007 - 08/2002
3	Microcephaly 01/2015 - 01/2014
2	Schizophrenia (Dementia Praecox) 01/2022 - 01/2021
2	Autistic Disorder (Autism) 01/2021 - 01/2010
2	Cognitive Dysfunction 01/2018 - 04/2014
1	KBG syndrome 10/2022
1	Rare Diseases (Rare Disease) 07/2022
1	Snijders Blok-Campeau syndrome 01/2022
1	Headache (Headaches) 01/2021
1	Nervous System Diseases (Neurological Disorders) 01/2021
1	Muscle Spasticity (Spastic) 01/2021
1	Vomiting 01/2021
1	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021
1	Floating-harbor syndrome 01/2021
1	Mental Disorders (Mental Disorder) 10/2019
1	Complex Partial Epilepsy (Psychomotor Epilepsy) 01/2019
1	Nasodigitoacoustic syndrome 01/2019
1	Hydrocephalus (Hydrocephaly) 01/2019
1	Hyperplasia 01/2019
1	Overweight 01/2018
1	Muscular Dystrophies (Muscular Dystrophy) 12/2017
1	Walker-Warburg Syndrome 12/2017
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 12/2017
1	Autism Spectrum Disorder 10/2017
1	Spondylocarpotarsal synostosis 01/2017
1	Pathologic Complete Response 01/2016
1	Gonadal Dysgenesis (Gonadal Agenesis) 10/2015
1	Hypertelorism 08/2015
1	Infantile Epileptic-Dyskinetic Encephalopathy 05/2015
1	Obesity 01/2015
1	Neoplasms (Cancer) 01/2014
1	Hypersensitivity (Allergy) 01/2014
1	Nijmegen Breakage Syndrome 01/2014
1	Type I 3-Methylglutaconic Aciduria 11/2013
1	Otitis Media 08/2013
1	Contracture 08/2013
1	Congenital Disorders of Glycosylation 08/2013
1	Craniofacial Abnormalities 07/2012
1	Tuberous Sclerosis (Bourneville's Disease) 02/2011
1	Blepharophimosis 01/2011
1	Disorders of Sex Development (Intersexuality) 01/2010

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 10/2022 - 01/2010
8	Histone MethyltransferasesIBA 01/2021 - 03/2013
7	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 01/2004
5	EuchromatinIBA 01/2018 - 03/2013
4	Histones (Histone)IBA 01/2022 - 01/2016
3	ChromatinIBA 01/2022 - 07/2012
2	Lysine (L-Lysine)FDA Link 01/2022 - 01/2021
2	MethyltransferasesIBA 01/2022 - 01/2021
2	EnzymesIBA 01/2020 - 02/2014
2	Transcription Factors (Transcription Factor)IBA 01/2019 - 04/2014
2	Nonsense Codon (Nonsense Mutation)IBA 01/2010 - 02/2006
2	creatine transporterIBA 09/2007 - 07/2004
2	X-linked Creatine deficiencyIBA 09/2007 - 07/2004
1	Calcium Carbonate (Limestone)FDA Link 07/2022
1	Serotonin (5 Hydroxytryptamine)IBA 01/2021
1	Mitochondrial DNA (mtDNA)IBA 01/2021
1	RNA (Ribonucleic Acid)IBA 01/2021
1	Peptide Elongation Factors (Elongation Factor)IBA 01/2020
1	COOH-terminal signal transamidaseIBA 01/2019
1	GlypicansIBA 01/2019
1	Protein Isoforms (Isoforms)IBA 12/2018
1	Adenosine Triphosphatases (ATPase)IBA 11/2018
1	Mediator ComplexIBA 05/2018
1	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2018
1	diazonaphthalenedisulfonic acid (NDS)IBA 01/2018
1	ProtocadherinsIBA 01/2018
1	N-acetyltryptophanamide (NATA)IBA 01/2018
1	Dystroglycans (Dystroglycan)IBA 12/2017
1	Guanosine Diphosphate (GDP)IBA 11/2017
1	Guanosine Triphosphate (GTP)IBA 11/2017
1	Protein Kinases (Protein Kinase)IBA 11/2017
1	Myosins (Myosin)IBA 01/2017
1	DNA HelicasesIBA 01/2016
1	Co-Repressor ProteinsIBA 01/2016
1	Valproic Acid (Depakote)FDA LinkGeneric 01/2016
1	FSH Receptors (FSH Receptor)IBA 10/2015
1	Phosphoprotein Phosphatases (Phosphatases, Protein)IBA 08/2015
1	Serine (L-Serine)FDA Link 08/2015
1	Threonine (L-Threonine)FDA Link 08/2015
1	Protein Phosphatase 2 (Protein Phosphatase 2A)IBA 08/2015
1	Voltage-Gated Sodium ChannelsIBA 05/2015
1	Insulin (Novolin)FDA Link 01/2015
1	beta CateninIBA 01/2015
1	Cullin Proteins (Cullins)IBA 01/2015
1	KinesinsIBA 07/2014
1	CateninsIBA 04/2014
1	DystrophinIBA 04/2014
1	Ligases (Synthetase)IBA 01/2014
1	Leucine (L-Leucine)FDA Link 11/2013
1	LipidsIBA 08/2013
1	trans-sodium crocetinate (crocetin)IBA 02/2011
1	Forkhead Transcription Factors (Forkhead Box Proteins)IBA 01/2011

Therapy/Procedure

1	Therapeutics 01/2019
1	Enteral Nutrition (Feeding, Tube) 08/2013