Ingrid E Scheffer Selected Research

Calcium

11/2018	De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
10/2017	The effect of the ketogenic diet on the developing skeleton.

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Ingrid E Scheffer Research Topics

Disease

83	Epilepsy (Aura) 01/2024 - 02/2002
51	Seizures (Absence Seizure) 01/2024 - 09/2002
33	Myoclonic Epilepsies (Myoclonic Encephalopathy) 10/2023 - 02/2002
26	Brain Diseases (Brain Disorder) 01/2023 - 06/2006
12	Febrile Seizures (Febrile Seizure) 11/2022 - 02/2002
11	Generalized Epilepsy 01/2024 - 02/2002
10	Partial Epilepsies (Epilepsy, Partial) 01/2024 - 12/2008
10	Epileptic Syndromes 01/2023 - 09/2002
9	Intellectual Disability (Idiocy) 12/2022 - 06/2008
8	Sudden Unexpected Death in Epilepsy 01/2023 - 09/2014
7	Cognitive Dysfunction 01/2022 - 12/2011
7	Absence Epilepsy (Childhood Absence Epilepsy) 01/2021 - 01/2003
6	Neurodevelopmental Disorders 01/2023 - 01/2016
6	Idiopathic Generalized Epilepsy 01/2021 - 05/2004
5	Temporal Lobe Epilepsy 01/2023 - 05/2005
5	Autism Spectrum Disorder 12/2022 - 04/2007
5	Tuberous Sclerosis (Bourneville's Disease) 12/2022 - 04/2014
5	Drug Resistant Epilepsy 01/2022 - 03/2012
5	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 01/2018 - 04/2003
5	Channelopathies 01/2013 - 04/2003
5	Benign Neonatal Epilepsy (Benign Familial Neonatal Convulsions) 10/2012 - 09/2002
4	Frontal Lobe Epilepsy (Epilepsy, Supplementary Motor) 10/2018 - 08/2008
4	Generalized Epilepsy with Febrile Seizures Plus 07/2009 - 02/2002
4	Juvenile Myoclonic Epilepsy 04/2007 - 04/2003
3	Fever (Fevers) 10/2023 - 01/2017
3	Sleepiness 10/2023 - 01/2017
3	Ataxia (Dyssynergia) 06/2023 - 08/2015
3	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 06/2023 - 08/2015
3	Inborn Genetic Diseases (Disease, Hereditary) 12/2022 - 01/2009
3	Status Epilepticus (Complex Partial Status Epilepticus) 12/2022 - 01/2012
3	Spasm (Spasms) 12/2022 - 02/2015
3	Migraine with Aura (Familial Hemiplegic Migraine) 11/2022 - 01/2009
3	Infantile Epileptic-Dyskinetic Encephalopathy 09/2015 - 08/2002
3	Convulsions benign familial neonatal dominant form 03/2014 - 09/2002
2	Stuttering (Stammering) 12/2023 - 10/2022
2	Lennox Gastaut Syndrome 01/2023 - 01/2022
2	Infantile Spasms (West Syndrome) 12/2022 - 10/2010
2	Malformations of Cortical Development 02/2022 - 04/2014
2	Neoplasms (Cancer) 01/2022 - 01/2016
2	COVID-19 01/2022 - 01/2020
2	Hamartoma 01/2022 - 01/2016
2	Dystonia 12 01/2021 - 09/2012
2	Glut1 Deficiency Syndrome 09/2020 - 10/2015
2	Fatigue 10/2018 - 01/2017
2	Periventricular Nodular Heterotopia 08/2014 - 11/2013
2	Hippocampal Sclerosis 10/2013 - 11/2010

Drug/Important Bio-Agent (IBA)

28	Sodium Channels (Sodium Channel)IBA 12/2022 - 09/2002
21	Anticonvulsants (Antiepileptic Drugs)IBA 01/2020 - 04/2007
16	Proteins (Proteins, Gene)FDA Link 12/2023 - 07/2004
11	Ion Channels (Ion Channel)IBA 01/2018 - 09/2002
8	Immunoglobulin E (IgE)IBA 01/2024 - 05/2004
8	Potassium Channels (Potassium Channel)IBA 06/2023 - 09/2002
7	VaccinesIBA 01/2022 - 06/2006
6	FenfluramineIBA 10/2023 - 11/2020
6	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 01/2022 - 09/2009
6	CannabidiolIBA 10/2021 - 01/2017
5	Biomarkers (Surrogate Marker)IBA 10/2023 - 01/2018
5	SodiumIBA 01/2022 - 04/2004
5	Valproic Acid (Depakote)FDA LinkGeneric 01/2021 - 08/2004
5	Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA 08/2015 - 04/2003
4	Sodium Channel BlockersIBA 01/2023 - 09/2015
4	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 08/2014
4	Glucose (Dextrose)FDA LinkGeneric 09/2020 - 02/2014
3	stiripentolIBA 10/2023 - 01/2018
3	Phenytoin (Dilantin)FDA LinkGeneric 12/2022 - 09/2015
3	Voltage-Gated Sodium ChannelsIBA 11/2022 - 01/2009
3	Lacosamide FDA Link 11/2022 - 10/2018
3	Lamotrigine (Lamictal)FDA LinkGeneric 11/2022 - 01/2021
3	Levetiracetam (Keppra)FDA LinkGeneric 01/2022 - 09/2012
3	Amino Acids FDA Link 01/2019 - 12/2007
3	TOR Serine-Threonine KinasesIBA 01/2016 - 04/2014
3	GABA-A Receptors (GABA(A) Receptor)IBA 04/2003 - 02/2002
2	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 01/2024 - 12/2016
2	PoisonsIBA 05/2023 - 12/2018
2	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 01/2023 - 03/2014
2	CationsIBA 01/2023 - 01/2021
2	Vigabatrin FDA Link 12/2022 - 01/2022
2	Prednisolone (Predate)FDA LinkGeneric 12/2022 - 11/2020
2	Carbamazepine (Tegretol)FDA LinkGeneric 11/2022 - 01/2017
2	F-Box ProteinsIBA 01/2022 - 01/2018
2	Neurotransmitter Agents (Neurotransmitter)IBA 01/2022 - 01/2018
2	LipidsIBA 01/2022 - 01/2019
2	Adenosine Triphosphatases (ATPase)IBA 01/2021 - 09/2012
2	Protein Isoforms (Isoforms)IBA 01/2021 - 12/2016
2	EnzymesIBA 01/2021 - 01/2018
2	GABA Receptors (GABA Receptor)IBA 01/2021 - 08/2003
2	CannabinoidsIBA 12/2020 - 01/2019
2	gamma-Aminobutyric Acid (GABA)IBA 08/2019 - 07/2004
2	CalciumIBA 11/2018 - 10/2017
2	Quinidine (Chinidin)FDA LinkGeneric 01/2018 - 04/2014
2	LigandsIBA 01/2018 - 07/2006
2	polyalanineIBA 09/2014 - 08/2002
2	NucleotidesIBA 09/2014 - 02/2014
2	PotassiumIBA 03/2014 - 09/2010

Therapy/Procedure

33	Therapeutics 12/2022 - 04/2007
8	Ketogenic Diet 01/2022 - 09/2009
4	Precision Medicine 01/2022 - 01/2021
2	Speech Therapy (Therapy, Speech) 10/2022 - 12/2021
2	Induced Hyperthermia (Thermotherapy) 12/2016 - 12/2015
2	Immunotherapy 01/2012 - 05/2011