Vincenzo Leuzzi Selected Research

Sodium Channels (Sodium Channel)

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.
1/2012	Genes of early-onset epileptic encephalopathies: from genotype to phenotype.

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Vincenzo Leuzzi Research Topics

Disease

21	Phenylketonurias (Phenylketonuria) 11/2023 - 03/2013
20	Intellectual Disability (Idiocy) 03/2024 - 12/2002
12	Epilepsy (Aura) 01/2023 - 12/2002
11	Brain Diseases (Brain Disorder) 10/2022 - 01/2012
9	Movement Disorders (Movement Disorder) 09/2023 - 12/2002
8	Parkinsonian Disorders (Parkinsonism) 04/2024 - 04/2014
8	Ataxia (Dyssynergia) 03/2024 - 09/2012
7	Neurodevelopmental Disorders 01/2023 - 01/2015
7	Seizures (Absence Seizure) 12/2019 - 01/2014
6	Guanidinoacetate methyltransferase deficiency 06/2022 - 01/2006
4	Dyskinesias (Dyskinesia) 01/2023 - 04/2017
4	Hyperkinesis 01/2023 - 04/2017
4	Dystonia (Limb Dystonia) 11/2022 - 04/2014
3	Muscle Hypotonia (Hypotonia) 03/2024 - 04/2016
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2022 - 11/2014
3	due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia 11/2021 - 08/2015
3	Homocystinuria 03/2020 - 09/2015
3	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 12/2018 - 01/2017
3	Ataxia Telangiectasia (Louis Bar Syndrome) 01/2018 - 09/2012
3	Cognitive Dysfunction 01/2018 - 02/2013
2	Disease Progression 10/2022 - 04/2014
2	Stroke (Strokes) 01/2022 - 01/2022
2	Fabry Disease (Fabry's Disease) 01/2022 - 04/2021
2	Congenital Disorders of Glycosylation 01/2022 - 01/2022
2	Rare Diseases (Rare Disease) 11/2021 - 08/2015
2	autosomal recessive Segawa syndrome 01/2021 - 06/2010
2	Cerebellar Ataxia (Dysmetria) 01/2021 - 11/2019
2	Aromatic amino acid decarboxylase deficiency 01/2020 - 04/2013
2	Chronic Brain Damage 12/2015 - 05/2012
2	Purpura 12/2015 - 05/2012
2	Ethylmalonic encephalopathy 12/2015 - 05/2012
2	Language Disorders (Language Disorder) 02/2013 - 12/2002
1	Agenesis of Cerebellar Vermis 03/2024
1	Hyperprolactinemia 07/2023
1	Nervous System Diseases (Neurological Disorders) 07/2023
1	Fatigue 01/2023
1	Hypersensitivity (Allergy) 01/2023
1	Syncope (Fainting) 01/2023
1	Hypotension (Low Blood Pressure) 01/2023
1	Sleepiness 01/2023
1	Chorea (Rheumatic Chorea) 11/2022
1	Type I 3-Methylglutaconic Aciduria 04/2022
1	MELAS Syndrome (Syndrome, MELAS) 01/2022

Drug/Important Bio-Agent (IBA)

11	CreatineIBA 06/2022 - 12/2002
11	Phenylalanine (L-Phenylalanine)FDA Link 11/2021 - 03/2013
10	Neurotransmitter Agents (Neurotransmitter)IBA 07/2023 - 04/2014
9	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 11/2021 - 03/2013
6	Dopamine (Intropin)FDA LinkGeneric 07/2023 - 04/2014
5	Levodopa (L Dopa)FDA LinkGeneric 04/2024 - 06/2010
5	Proteins (Proteins, Gene)FDA Link 03/2024 - 06/2010
5	Biogenic Amines (Biogenic Amine)IBA 07/2023 - 08/2015
5	Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA 06/2022 - 12/2002
5	sapropterin (tetrahydrobiopterin)FDA Link 01/2021 - 03/2013
5	creatine transporterIBA 02/2013 - 12/2002
4	EnzymesIBA 01/2022 - 01/2014
3	Aromatic-L-Amino-Acid DecarboxylasesIBA 07/2023 - 01/2021
3	glycocyamineIBA 06/2022 - 02/2013
3	Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA 11/2021 - 04/2014
3	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2018 - 01/2017
3	Dexamethasone (Maxidex)FDA LinkGeneric 01/2018 - 01/2014
3	Anticonvulsants (Antiepileptic Drugs)IBA 01/2018 - 02/2013
3	Arginine-Glycine Amidinotransferase DeficiencyIBA 02/2013 - 02/2006
3	glycine amidinotransferase (arginine-glycine amidinotransferase)IBA 02/2013 - 12/2002
2	Dopamine Agonists (Dopamine Agonist)IBA 07/2023 - 01/2020
2	CatecholaminesIBA 07/2023 - 06/2010
2	Serotonin (5 Hydroxytryptamine)IBA 07/2023 - 01/2020
2	Caffeine (No Doz)FDA LinkGeneric 01/2023 - 01/2022
2	ProlactinIBA 01/2023 - 09/2019
2	Lysine (L-Lysine)FDA Link 01/2023 - 11/2021
2	Biomarkers (Surrogate Marker)IBA 01/2023 - 09/2019
2	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 11/2022 - 11/2021
2	Amino Acids FDA Link 10/2022 - 01/2020
2	AcidsIBA 06/2022 - 06/2010
2	Tyrosine (L-Tyrosine)FDA Link 11/2021 - 01/2014
2	coenzyme Q10 (CoQ10)IBA 09/2021 - 11/2019
2	Sodium Channels (Sodium Channel)IBA 11/2019 - 01/2012
2	BiopterinsIBA 07/2017 - 08/2015
2	Oxidoreductases (Dehydrogenase)IBA 01/2017 - 01/2012
2	X-linked Creatine deficiencyIBA 10/2016 - 01/2014
2	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 12/2015 - 05/2012
1	Selegiline (E250)FDA LinkGeneric 09/2023
1	Cabergoline FDA LinkGeneric 07/2023
1	GTP-Binding Proteins (G-Protein)IBA 01/2023
1	gamma-Aminobutyric Acid (GABA)IBA 01/2023
1	Myelin Basic ProteinIBA 01/2023
1	Aldicarb (Temik)IBA 01/2023
1	Dopa DecarboxylaseIBA 01/2023
1	Acetylcholine (Acetylcholine Chloride)FDA Link 01/2023
1	Dopamine Agents (Dopaminergic Agents)IBA 11/2022
1	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 11/2022
1	Carboxy-LyasesIBA 10/2022
1	Leucine (L-Leucine)FDA Link 04/2022
1	methylglutaconyl-CoA hydrataseIBA 04/2022
1	Arginine (L-Arginine)FDA Link 01/2022
1	Glycoproteins (Glycoprotein)IBA 01/2022

Therapy/Procedure

13	Therapeutics 07/2023 - 09/2012
2	Deep Brain Stimulation 11/2022 - 04/2017
1	Precision Medicine 11/2023
1	Diet Therapy (Therapy, Diet) 11/2023
1	Ketogenic Diet 11/2022