Johannes R Lemke Selected Research

Neurodevelopmental Disorders

1/2024	Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy.
1/2023	Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.
1/2023	Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.
12/2022	De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
1/2022	Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
1/2022	De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
1/2019	GRIN2A-related disorders: genotype and functional consequence predict phenotype.
1/2019	Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
10/2017	Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
5/2017	Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

For more, sign up at right for free...

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Johannes R Lemke Research Topics

Disease

17	Epilepsy (Aura) 01/2024 - 12/2012
13	Brain Diseases (Brain Disorder) 01/2024 - 04/2015
11	Neurodevelopmental Disorders 01/2024 - 01/2017
6	Seizures (Absence Seizure) 01/2019 - 12/2012
4	Nervous System Diseases (Neurological Disorders) 03/2024 - 11/2018
4	Epileptic Syndromes 09/2016 - 11/2013
3	Partial Epilepsies (Epilepsy, Partial) 01/2024 - 01/2014
3	Infantile Spasms (West Syndrome) 03/2020 - 01/2014
2	Intellectual Disability (Idiocy) 01/2023 - 01/2017
2	Febrile Seizures (Febrile Seizure) 12/2022 - 12/2014
2	Obesity 01/2021 - 05/2017
2	Atrophy 03/2020 - 09/2017
2	Status Epilepticus (Complex Partial Status Epilepticus) 01/2019 - 10/2016
2	Temporal Lobe Epilepsy 09/2015 - 06/2015
2	Fever (Fevers) 12/2014 - 11/2013
2	Myoclonic Epilepsies (Myoclonic Encephalopathy) 11/2013 - 12/2012
1	Down Syndrome (Down's Syndrome) 02/2024
1	Trisomy (Trisomies) 02/2024
1	Trisomy 18 Syndrome 02/2024
1	Wolf-Hirschhorn Syndrome 01/2023
1	Pulmonary Arterial Hypertension 01/2023
1	Rare Diseases (Rare Disease) 01/2023
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 10/2022
1	Microcephaly 10/2022
1	Ichthyosis (Xeroderma) 01/2022
1	Skin Diseases (Skin Disease) 01/2022
1	Neuroblastoma 01/2022
1	Acquired Immunodeficiency Syndrome (AIDS) 11/2021
1	Lipoma (Lipomata) 01/2021
1	Fragile X Syndrome (Martin Bell Syndrome) 01/2021
1	Brain Edema (Cerebral Edema) 01/2019
1	Respiratory Insufficiency (Respiratory Failure) 01/2019
1	Leukoencephalopathies 10/2018
1	Hypogonadism (Hypergonadotropic Hypogonadism) 04/2018
1	Paraplegia (Spastic Paraplegia) 01/2018
1	Polymicrogyria 01/2018
1	Morbid Obesity 05/2017
1	Neoplasms (Cancer) 04/2017
1	Mucopolysaccharidosis IV (Morquio Syndrome) 03/2017
1	Mucolipidoses (Sialidosis) 03/2017
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 03/2017
1	GM1 Gangliosidosis (Gangliosidosis GM1) 03/2017
1	Neuraminidase 1 deficiency 03/2017
1	Neuraminidase deficiency with beta-galactosidase deficiency 03/2017
1	Movement Disorders (Movement Disorder) 01/2017
1	Ataxia (Dyssynergia) 01/2017

Drug/Important Bio-Agent (IBA)

10	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 03/2024 - 01/2014
3	Potassium Channels (Potassium Channel)IBA 11/2023 - 06/2017
3	Ion Channels (Ion Channel)IBA 01/2023 - 01/2014
3	Proteins (Proteins, Gene)FDA Link 01/2022 - 12/2014
3	Anticonvulsants (Antiepileptic Drugs)IBA 05/2017 - 12/2012
2	N-Methylaspartate (NMDA)IBA 01/2024 - 01/2014
2	gamma-Aminobutyric Acid (GABA)IBA 12/2022 - 01/2022
2	Sodium Channel BlockersIBA 01/2022 - 05/2017
2	RNA (Ribonucleic Acid)IBA 11/2021 - 01/2021
2	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 03/2021 - 09/2016
2	NucleotidesIBA 01/2021 - 03/2020
2	Voltage-Gated Sodium ChannelsIBA 11/2019 - 05/2017
2	Sodium Channels (Sodium Channel)IBA 05/2017 - 12/2012
2	SodiumIBA 05/2017 - 12/2012
1	Ancient DNAIBA 02/2024
1	IronIBA 02/2024
1	Serine (L-Serine)FDA Link 01/2024
1	Ionotropic Glutamate ReceptorsIBA 01/2024
1	Memantine (Namenda)FDA Link 01/2024
1	CalpainIBA 01/2023
1	Lysine (L-Lysine)FDA Link 01/2023
1	Qa-SNARE Proteins (Syntaxin)IBA 01/2023
1	Amino Acids FDA Link 01/2023
1	Histones (Histone)IBA 01/2023
1	GABA Plasma Membrane Transport ProteinsIBA 12/2022
1	Amino Acid Transport Systems (Amino Acid Transporter)IBA 12/2022
1	Transfer RNA (tRNA)IBA 10/2022
1	Tryptophan-tRNA LigaseIBA 10/2022
1	Ligases (Synthetase)IBA 10/2022
1	Lipoxygenase (Lipoxygenase-1)IBA 01/2022
1	Tetrodotoxin (Tetradotoxin)IBA 01/2022
1	PotassiumIBA 03/2021
1	AsparagineIBA 01/2021
1	LipidsIBA 01/2021
1	human PRRT2 proteinIBA 10/2020
1	GlutaminaseIBA 01/2019
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2019
1	Cyclic NucleotidesIBA 11/2018
1	Biomarkers (Surrogate Marker)IBA 10/2018
1	Gonadotropin-Releasing Hormone (GnRH)FDA Link 04/2018
1	Adenosine Monophosphate (AMP)IBA 01/2018
1	LigandsIBA 01/2018
1	SpectrinIBA 09/2017
1	VitaminsIBA 06/2017
1	Deubiquitinating EnzymesIBA 04/2017
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 03/2017
1	OligosaccharidesIBA 03/2017
1	Lysergic Acid Diethylamide (LSD)IBA 03/2017
1	Ketamine FDA LinkGeneric 10/2016
1	MagnesiumIBA 10/2016

Therapy/Procedure

6	Therapeutics 10/2022 - 11/2013
4	Precision Medicine 10/2022 - 10/2016
1	Electrodes (Electrode) 01/2018
1	Ligation 05/2017