Samuel F Berkovic Selected Research

Nicotinic Receptors (Nicotinic Acetylcholine Receptor)

8/2015	PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.
4/2010	Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy.
8/2008	Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.
9/2007	Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation.
8/2003	The genetics of human epilepsy.
4/2003	Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.
7/2002	Proconvulsant-induced seizures in alpha(4) nicotinic acetylcholine receptor subunit knockout mice.

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Samuel F Berkovic Research Topics

Disease

75	Epilepsy (Aura) 01/2023 - 02/2002
36	Seizures (Absence Seizure) 01/2023 - 07/2002
15	Brain Diseases (Brain Disorder) 01/2023 - 06/2006
15	Generalized Epilepsy 08/2019 - 02/2002
14	Partial Epilepsies (Epilepsy, Partial) 01/2022 - 08/2002
14	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2020 - 02/2002
14	Febrile Seizures (Febrile Seizure) 01/2020 - 02/2002
10	Intellectual Disability (Idiocy) 12/2022 - 10/2003
10	Absence Epilepsy (Childhood Absence Epilepsy) 01/2021 - 11/2002
9	Idiopathic Generalized Epilepsy 01/2021 - 02/2003
8	Epileptic Syndromes 07/2014 - 08/2002
7	Temporal Lobe Epilepsy 01/2023 - 01/2002
7	Sudden Unexpected Death in Epilepsy 01/2023 - 09/2014
7	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2021 - 05/2011
7	Juvenile Myoclonic Epilepsy 01/2019 - 04/2003
7	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 01/2018 - 07/2002
6	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 12/2022 - 10/2010
5	Ataxia (Dyssynergia) 01/2023 - 05/2011
5	Autism Spectrum Disorder 12/2022 - 04/2007
5	Benign Neonatal Epilepsy (Benign Familial Neonatal Convulsions) 10/2012 - 09/2002
4	Drug Resistant Epilepsy 01/2022 - 01/2005
4	Cognitive Dysfunction 01/2017 - 12/2011
4	Channelopathies 10/2012 - 04/2003
4	Generalized Epilepsy with Febrile Seizures Plus 07/2009 - 02/2002
3	Sudden Death 01/2023 - 10/2017
3	Frontal Lobe Epilepsy (Epilepsy, Supplementary Motor) 10/2018 - 08/2008
3	Dyskinesias (Dyskinesia) 02/2014 - 07/2008
2	Rare Diseases (Rare Disease) 10/2023 - 02/2013
2	Mental Disorders (Mental Disorder) 07/2023 - 10/2003
2	Frontotemporal Dementia (Semantic Dementia) 07/2023 - 10/2022
2	Neurodegenerative Diseases (Neurodegenerative Disease) 07/2023 - 10/2022
2	Tuberous Sclerosis (Bourneville's Disease) 12/2022 - 05/2014
2	Dementia (Dementias) 11/2022 - 10/2003
2	Schizophrenia (Dementia Praecox) 10/2022 - 10/2009
2	Hypothalamic hamartomas 01/2022 - 03/2004
2	Hamartoma 01/2022 - 01/2016
2	Fever (Fevers) 01/2022 - 05/2017
2	Weight Gain 10/2014 - 12/2003
2	Periventricular Nodular Heterotopia 08/2014 - 11/2013
2	Hippocampal Sclerosis 10/2013 - 11/2010
2	Convulsions benign familial neonatal dominant form 02/2010 - 09/2002
2	Glioma (Gliomas) 08/2007 - 04/2003
1	Movement Disorders (Movement Disorder) 01/2023
1	Heart Diseases (Heart Disease) 01/2023
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 12/2022
1	Inborn Genetic Diseases (Disease, Hereditary) 12/2022
1	Creutzfeldt-Jakob Syndrome (Creutzfeldt-Jakob Disease) 11/2022
1	Treatment-Resistant Schizophrenia 10/2022
1	Malformations of Cortical Development 02/2022

Drug/Important Bio-Agent (IBA)

19	Sodium Channels (Sodium Channel)IBA 01/2023 - 09/2002
18	Anticonvulsants (Antiepileptic Drugs)IBA 01/2020 - 08/2002
13	Ion Channels (Ion Channel)IBA 01/2018 - 09/2002
12	Proteins (Proteins, Gene)FDA Link 10/2022 - 07/2004
11	Immunoglobulin E (IgE)IBA 01/2021 - 02/2003
10	Biomarkers (Surrogate Marker)IBA 10/2023 - 01/2017
8	gamma-Aminobutyric Acid (GABA)IBA 08/2019 - 11/2002
7	Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA 08/2015 - 07/2002
7	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 02/2014 - 07/2008
7	GABA-A Receptors (GABA(A) Receptor)IBA 03/2008 - 02/2002
6	Potassium Channels (Potassium Channel)IBA 01/2018 - 09/2002
5	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 08/2014
5	Valproic Acid (Depakote)FDA LinkGeneric 01/2021 - 12/2005
5	VaccinesIBA 01/2020 - 06/2006
4	Levetiracetam (Keppra)FDA LinkGeneric 01/2022 - 01/2005
4	Glucose (Dextrose)FDA LinkGeneric 12/2018 - 07/2008
3	Lamotrigine (Lamictal)FDA LinkGeneric 01/2023 - 01/2021
3	EnzymesIBA 12/2022 - 01/2019
3	GABA Receptors (GABA Receptor)IBA 01/2021 - 08/2003
3	Amino Acids FDA Link 01/2019 - 12/2007
3	LigandsIBA 01/2018 - 07/2006
3	Carbamazepine (Tegretol)FDA LinkGeneric 01/2017 - 12/2005
3	Ligand-Gated Ion ChannelsIBA 11/2013 - 08/2003
3	SodiumIBA 11/2012 - 04/2004
2	Nonsense Codon (Nonsense Mutation)IBA 01/2023 - 01/2017
2	Protein Isoforms (Isoforms)IBA 01/2021 - 12/2016
2	Ethosuximide (Zarontin)FDA LinkGeneric 01/2021 - 10/2007
2	Phosphotransferases (Kinase)IBA 01/2019 - 05/2011
2	Quinidine (Chinidin)FDA LinkGeneric 01/2018 - 04/2014
2	TOR Serine-Threonine KinasesIBA 01/2016 - 05/2014
2	Lysosomal Membrane ProteinsIBA 02/2015 - 02/2013
2	Cathepsin FIBA 02/2015 - 04/2013
2	Leucine (L-Leucine)FDA Link 08/2007 - 04/2003
2	Arginine (L-Arginine)FDA Link 09/2006 - 11/2002
2	Glutamine (L-Glutamine)FDA Link 09/2006 - 11/2002
1	Tuberculin (PPD)IBA 07/2023
1	Mitogen-Activated Protein KinasesIBA 01/2023
1	CeramidesIBA 12/2022
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 12/2022
1	trans-sodium crocetinate (crocetin)IBA 12/2022
1	Clozapine (Clozaril)FDA LinkGeneric 10/2022
1	Sirolimus (Rapamycin)FDA Link 02/2022
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2022
1	CannabidiolIBA 01/2022
1	3-methyl-N,N-diethyl-p-phenylenediamineIBA 01/2022

Therapy/Procedure

18	Therapeutics 10/2022 - 01/2005
6	Transcranial Magnetic Stimulation 01/2017 - 08/2002
3	Anterior Temporal Lobectomy 01/2023 - 01/2002
3	Precision Medicine 10/2022 - 11/2021
3	Drug Therapy (Chemotherapy) 11/2010 - 12/2005
2	Induced Hyperthermia (Thermotherapy) 12/2016 - 12/2015