Renzo Guerrini Selected Research

Brain Diseases (Brain Disorder)

1/2022	Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
1/2022	Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants.
1/2021	ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
1/2021	Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
1/2021	Deciphering the premature mortality in PIGA-CDG - An untold story.
2/2020	Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations.
12/2019	Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis.
12/2019	Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.
11/2019	A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3.
1/2018	De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

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Renzo Guerrini Research Topics

Disease

71	Epilepsy (Aura) 03/2022 - 09/2002
48	Seizures (Absence Seizure) 09/2022 - 10/2002
24	Brain Diseases (Brain Disorder) 01/2022 - 02/2006
14	Myoclonic Epilepsies (Myoclonic Encephalopathy) 12/2022 - 10/2006
12	Epileptic Syndromes 09/2022 - 10/2002
11	Partial Epilepsies (Epilepsy, Partial) 01/2022 - 01/2006
8	Periventricular Nodular Heterotopia 01/2022 - 12/2002
8	Status Epilepticus (Complex Partial Status Epilepticus) 11/2018 - 08/2005
7	Drug Resistant Epilepsy 09/2022 - 10/2002
7	Focal Cortical Dysplasia 01/2022 - 03/2015
6	Intellectual Disability (Idiocy) 01/2022 - 10/2012
6	Tuberous Sclerosis (Bourneville's Disease) 11/2021 - 01/2017
6	Hypothermia 04/2018 - 11/2009
5	Generalized Epilepsy 03/2022 - 10/2014
5	Cognitive Dysfunction 01/2022 - 10/2002
5	Infantile Spasms (West Syndrome) 01/2021 - 04/2010
5	Brain Hypoxia-Ischemia (Hypoxia Ischemia, Brain) 04/2018 - 11/2009
4	Lissencephaly 01/2021 - 02/2004
4	Fabry Disease (Fabry's Disease) 06/2018 - 11/2008
4	Absence Epilepsy (Childhood Absence Epilepsy) 12/2009 - 01/2006
3	Malformations of Cortical Development 01/2022 - 05/2012
3	Lennox Gastaut Syndrome 01/2022 - 01/2017
3	Neurodevelopmental Disorders 01/2021 - 01/2020
3	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2021 - 01/2020
3	Mucopolysaccharidosis IV (Morquio Syndrome) 01/2021 - 07/2011
3	Sleepiness 01/2021 - 08/2013
3	Autism Spectrum Disorder 01/2020 - 01/2013
3	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 12/2018 - 01/2017
3	Spasm (Spasms) 01/2017 - 11/2005
3	Autistic Disorder (Autism) 09/2015 - 12/2011
3	Frontal Lobe Epilepsy (Epilepsy, Supplementary Motor) 08/2015 - 08/2006
3	Megalencephaly 08/2014 - 01/2013
3	Idiopathic Generalized Epilepsy 01/2006 - 02/2004
2	Congenital Disorders of Glycosylation 02/2022 - 01/2022
2	Pulmonary Arterial Hypertension 01/2022 - 12/2019
2	Febrile Seizures (Febrile Seizure) 01/2022 - 12/2019
2	Glioma (Gliomas) 10/2021 - 03/2021
2	Mitochondrial Diseases (Mitochondrial Disease) 07/2021 - 01/2018
2	Microcephaly 01/2021 - 01/2004
2	Diarrhea 01/2021 - 08/2013
2	Fever (Fevers) 01/2021 - 11/2013
2	Migraine with Aura (Familial Hemiplegic Migraine) 01/2021 - 11/2005
2	Dystonia (Limb Dystonia) 11/2020 - 01/2019
2	Neoplasms (Cancer) 01/2020 - 12/2013
2	Hydrocephalus (Hydrocephaly) 01/2020 - 02/2009
2	Lethargy 12/2019 - 01/2013
2	Reflex Epilepsy (Photosensitive Epilepsy) 12/2019 - 01/2006
2	Rare Diseases (Rare Disease) 12/2019 - 03/2013
2	GM1 Gangliosidosis (Gangliosidosis GM1) 11/2019 - 07/2011
2	Neuraminidase deficiency with beta-galactosidase deficiency 11/2019 - 08/2013
2	Disease Progression 11/2019 - 11/2015
2	Hemimegalencephaly 11/2019 - 01/2015
2	Hyperkinesis 11/2019 - 04/2017

Drug/Important Bio-Agent (IBA)

34	Pharmaceutical PreparationsIBA 03/2022 - 09/2003
22	Anticonvulsants (Antiepileptic Drugs)IBA 12/2019 - 10/2002
14	Proteins (Proteins, Gene)FDA Link 01/2022 - 02/2009
11	EnzymesIBA 01/2022 - 12/2003
9	Carbamazepine (Tegretol)FDA LinkGeneric 01/2022 - 01/2003
9	Sodium Channels (Sodium Channel)IBA 01/2022 - 04/2004
9	Topiramate (Topamax)FDA LinkGeneric 04/2018 - 12/2003
6	Biomarkers (Surrogate Marker)IBA 01/2022 - 01/2013
6	Ion Channels (Ion Channel)IBA 01/2017 - 07/2003
5	Valproic Acid (Depakote)FDA LinkGeneric 09/2022 - 09/2002
5	trans-sodium crocetinate (crocetin)IBA 09/2021 - 01/2017
4	FenfluramineIBA 12/2022 - 12/2019
4	Adenosine Triphosphatases (ATPase)IBA 01/2022 - 11/2005
4	Ketamine FDA LinkGeneric 11/2018 - 12/2012
4	Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA 08/2015 - 08/2006
4	Phenobarbital (Luminal)FDA Link 04/2011 - 12/2003
3	Glutamate-Ammonia Ligase (Glutamine Synthetase)IBA 10/2021 - 03/2015
3	Immunoglobulin E (IgE)IBA 01/2019 - 02/2004
3	DNA (Deoxyribonucleic Acid)IBA 11/2018 - 08/2014
3	Lamotrigine (Lamictal)FDA LinkGeneric 01/2018 - 09/2002
3	Phenytoin (Dilantin)FDA LinkGeneric 02/2015 - 01/2006
3	Cyclin-Dependent Kinases (cdk Proteins)IBA 11/2014 - 04/2010
3	ADP-Ribosylation Factors (ADP-Ribosylation Factor)IBA 11/2013 - 01/2004
3	FilaminsIBA 11/2013 - 12/2002
2	stiripentolIBA 09/2022 - 11/2019
2	Sodium Channel BlockersIBA 01/2022 - 01/2018
2	polyalanineIBA 01/2022 - 02/2004
2	MTOR InhibitorsIBA 11/2021 - 11/2015
2	Pyruvate CarboxylaseIBA 10/2021 - 03/2021
2	Mitochondrial DNA (mtDNA)IBA 07/2021 - 01/2018
2	Nonsense Codon (Nonsense Mutation)IBA 01/2021 - 02/2004
2	SolutionsIBA 01/2021 - 10/2002
2	Protein Isoforms (Isoforms)IBA 01/2021 - 08/2013
2	beta-Galactosidase (Lactaid)IBA 01/2021 - 07/2011
2	Amino Acids FDA Link 01/2021 - 07/2011
2	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 01/2021 - 02/2020
2	Neuraminidase (Sialidase)IBA 01/2020 - 08/2013
2	GlycosphingolipidsIBA 11/2019 - 11/2008
2	TOR Serine-Threonine KinasesIBA 11/2019 - 11/2015
2	microtubule-associated protein 1B (MAP5)IBA 01/2019 - 01/2018

Therapy/Procedure

20	Therapeutics 09/2022 - 01/2006
4	Operative Surgical Procedures 01/2020 - 07/2008
3	Precision Medicine 01/2022 - 10/2021
3	Ligation 01/2016 - 01/2012
3	Ketogenic Diet 11/2015 - 09/2009
2	Hemispherectomy 02/2021 - 11/2015
2	Drug Therapy (Chemotherapy) 11/2019 - 04/2011