Heather C Mefford Selected Research

Seizures (Absence Seizure)

1/2021	Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
1/2020	Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects.
1/2020	Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.
1/2018	A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.
1/2016	Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
9/2015	SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
9/2015	Mutations in KCNT1 cause a spectrum of focal epilepsies.
5/2015	Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
3/2015	Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.
2/2015	The phenotypic spectrum of SCN8A encephalopathy.

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Heather C Mefford Research Topics

Disease

14	Epilepsy (Aura) 01/2020 - 10/2009
12	Seizures (Absence Seizure) 01/2021 - 12/2012
9	Brain Diseases (Brain Disorder) 01/2022 - 12/2011
6	Neurodevelopmental Disorders 01/2022 - 01/2016
5	Intellectual Disability (Idiocy) 01/2020 - 02/2009
4	Autism Spectrum Disorder 01/2020 - 10/2009
3	Myoclonic Epilepsies (Myoclonic Encephalopathy) 12/2018 - 12/2015
3	Idiopathic Generalized Epilepsy 01/2010 - 02/2009
2	Neoplasms (Cancer) 01/2022 - 01/2016
2	Tetralogy of Fallot (Fallot Tetralogy) 10/2021 - 10/2021
2	Ataxia (Dyssynergia) 11/2016 - 12/2013
2	Generalized Epilepsy 11/2015 - 07/2013
2	Epileptic Syndromes 09/2015 - 12/2012
2	Schizophrenia (Dementia Praecox) 10/2009 - 02/2009
1	Rare Diseases (Rare Disease) 07/2022
1	Glioma (Gliomas) 01/2022
1	Fever (Fevers) 01/2021
1	Undiagnosed Diseases 12/2020
1	Cakut 10/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2020
1	Mental Disorders (Mental Disorder) 10/2019
1	Partial Epilepsies (Epilepsy, Partial) 01/2019
1	Brugada Syndrome 12/2018
1	Timothy syndrome 12/2018
1	Overweight 01/2018
1	Polymicrogyria 01/2018
1	Infantile Epileptic-Dyskinetic Encephalopathy 09/2015
1	Frontal Lobe Epilepsy (Epilepsy, Supplementary Motor) 09/2015
1	Spasm (Spasms) 02/2015
1	Cataract (Cataracts) 12/2013
1	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2013
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 12/2013
1	Hearing Loss (Hearing Impairment) 12/2013
1	Polyneuropathies (Polyneuropathy) 12/2013
1	Juvenile Myoclonic Epilepsy 07/2013
1	Arthrogryposis 01/2013
1	Contracture 01/2013
1	Pyridoxine-dependent epilepsy 12/2012
1	Cognitive Dysfunction 12/2011

Drug/Important Bio-Agent (IBA)

6	Proteins (Proteins, Gene)FDA Link 01/2022 - 07/2011
5	Immunoglobulin E (IgE)IBA 01/2014 - 02/2009
3	Pharmaceutical PreparationsIBA 01/2021 - 01/2016
3	Anticonvulsants (Antiepileptic Drugs)IBA 01/2018 - 12/2012
2	F-Box ProteinsIBA 01/2022 - 01/2018
2	Vascular Endothelial Growth Factor Receptors (VEGF Receptors)IBA 10/2021 - 10/2021
2	PoisonsIBA 12/2020 - 12/2018
2	Transcription Factors (Transcription Factor)IBA 10/2020 - 05/2014
2	Carrier Proteins (Binding Protein)IBA 01/2020 - 03/2015
2	DNA HelicasesIBA 01/2020 - 03/2015
2	Sodium Channels (Sodium Channel)IBA 12/2018 - 01/2016
2	CalciumIBA 12/2018 - 11/2018
2	gephyrinIBA 12/2017 - 12/2015
2	Ion Channels (Ion Channel)IBA 11/2016 - 08/2015
2	OligonucleotidesIBA 12/2011 - 05/2010
1	Calcium Carbonate (Limestone)FDA Link 07/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	CyclinsIBA 01/2022
1	DisintegrinsIBA 01/2022
1	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2022
1	Glycoproteins (Glycoprotein)IBA 01/2022
1	UbiquitinIBA 01/2022
1	Metalloproteases (Metalloproteinases)IBA 01/2022
1	Vascular Endothelial Growth Factor Receptor-2 (Vascular Endothelial Growth Factor Receptor 2)IBA 10/2021
1	AsparagineIBA 01/2021
1	Retinaldehyde (Retinal)IBA 01/2021
1	Peptide Elongation Factors (Elongation Factor)IBA 01/2020
1	Levetiracetam (Keppra)FDA LinkGeneric 01/2020
1	Protein Isoforms (Isoforms)IBA 01/2020
1	Phospholipase C betaIBA 01/2020
1	AMPA Receptors (AMPA Receptor)IBA 12/2019
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2019
1	trans-sodium crocetinate (crocetin)IBA 01/2019
1	Sirolimus (Rapamycin)FDA Link 01/2019
1	Calcium Channels (Calcium Channel)IBA 12/2018
1	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2018
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2018
1	LigandsIBA 01/2018
1	Forkhead Transcription Factors (Forkhead Box Proteins)IBA 01/2017
1	RetinoidsIBA 12/2016
1	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 12/2016
1	Guanine NucleotidesIBA 01/2016
1	GTP-Binding Proteins (G-Protein)IBA 01/2016
1	Cholinergic ReceptorsIBA 11/2015
1	Phenytoin (Dilantin)FDA LinkGeneric 09/2015
1	Sodium Channel BlockersIBA 09/2015
1	Potassium Channels (Potassium Channel)IBA 09/2015
1	SodiumIBA 09/2015
1	TOR Serine-Threonine KinasesIBA 08/2015
1	GABA Plasma Membrane Transport ProteinsIBA 05/2015
1	ubiquitin isopeptidaseIBA 03/2015
1	Ubiquitin-Specific ProteasesIBA 03/2015
1	NucleotidesIBA 09/2014
1	SandIBA 05/2014
1	HydrolasesIBA 12/2013
1	Contractile ProteinsIBA 01/2013
1	Synapsins (Synapsin I)IBA 01/2013
1	Biomarkers (Surrogate Marker)IBA 12/2012
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 12/2012

Therapy/Procedure

4	Therapeutics 01/2021 - 02/2015
1	Electrodes (Electrode) 01/2018