A5103246756- Ion channel regulation and function
- Ion Transport and Channel Regulation
- Migraine and Headache Studies
- Neuroscience and Neuropharmacology Research
- Cancer therapeutics and mechanisms
- Genetics and Neurodevelopmental Disorders
- Nicotinic Acetylcholine Receptors Study
- Drug Transport and Resistance Mechanisms
- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Neurological disorders and treatments
- Plant-derived Lignans Synthesis and Bioactivity
- Cardiac electrophysiology and arrhythmias
- Trigeminal Neuralgia and Treatments
- Mitochondrial Function and Pathology
- Renal and related cancers
- Endoplasmic Reticulum Stress and Disease
- Renal Diseases and Glomerulopathies
- Glycogen Storage Diseases and Myoclonus
- Renal and Vascular Pathologies
- Lung Cancer Research Studies
- Neuroscience of respiration and sleep
- Chemotherapy-induced organ toxicity mitigation
- Sympathectomy and Hyperhidrosis Treatments
- Genetic Neurodegenerative Diseases
IRCCS Ospedale San Raffaele
2022-2024
San Raffaele University of Rome
2005-2019
Vita-Salute San Raffaele University
2006-2016
Seattle Children's Hospital
2004
Telethon Institute Of Genetics And Medicine
1996-2001
National Research Council
2000
Istituti di Ricovero e Cura a Carattere Scientifico
1998
Ospedale Maggiore
1998
University of Pavia
1998
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
1998
Familial hemiplegic migraine type 2 (FHM2) is an autosomal dominant form of with aura that caused by mutations the α2-subunit Na,K-ATPase, isoform almost exclusively expressed in astrocytes adult brain. We generated first FHM2 knock-in mouse model carrying human W887R mutation Atp1a2 orthologous gene. Homozygous Atp1a2(R887/R887) mutants died just after birth, while heterozygous Atp1a2(+/R887) mice showed no apparent clinical phenotype. The mutant α2 Na,K-ATPase protein was barely detectable...
We describe a pedigree in which 3 members the same generation are affected by Rolandic epilepsy (RE), paroxysmal exercise-induced dystonia (PED), and writer's cramp (WC). Both seizures had strong age-related expression that peaked during childhood, whereas WC, also appearing has been stable since diagnosis. Genome-wide linkage analysis performed under assumption of recessive inheritance identified common homozygous haplotype critical region spanning 6 cM between markers D16S3133 D16S3131 on...
Background —The congenital long-QT syndrome (LQTS) is a genetically heterogeneous disease characterized by prolonged ventricular repolarization and life-threatening arrhythmias. Mutations of the KVLQT1 gene, cardiac potassium channel, generate two allelic diseases: Romano-Ward syndrome, inherited as dominant trait, Jervell Lange-Nielsen an autosomal recessive trait. Methods Results —A consanguineous family with clinical phenotype LQTS was screened for mutations in gene. Complementary RNAs...
Familial hemiplegic migraine (FHM) is an autosomal dominant form of with aura. The disease caused by mutations at least three genes among which two have been identified, CACNA1A and ATP1A2. Very few identified so far in We screened the coding sequence ATP1A2 26 unrelated FHM probands whom screening was negative. A total eight different were 11 (41%), including six missense mutations, one small deletion leading to a frameshift, frame deletion. All novel mutations. Two recurrent, families,...
Genetic mutations in TBC1D24 have been associated with multiple phenotypes, epilepsy being the main clinical manifestation. The protein consists of unique association a Tre2/Bub2/Cdc16 (TBC) domain and TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense loss-of-function described are spread over entire protein. Through whole genome/exome sequencing we identified compound heterozygous mutations, R360H G501R, within TLDc domain, an index family Rolandic exercise-induced...
Background: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is caused by mutations in the α4 subunit of neuronal nicotinic acetylcholine receptor (CHRNA4) gene, mapping on chromosome 20q13.2. A second ADNFLE locus was mapped 15q24.
Abstract Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder characterized by episodes of transient hemiparesis followed headache. Two chromosomal loci are associated to FHM: FHM1 on chromosome 19 and FHM2 1q21‐23. Mutations the α‐1A subunit voltage gated calcium channel (CACNA1A) responsible for FHM1. critical region spans 28cM, hence hampering identification gene. Here, we report locus refining linkage analysis two large Italian families affected pure FHM. The new...
Autosomal dominant cortical myoclonus and epilepsy (ADCME) is characterized by distal, fairly rhythmic with variable severity. We have previously mapped the disease locus on chromosome 2p11.1-q12.2 genome-wide linkage analysis. Additional pedigrees affected similar forms of been associated chromosomes 8q, 5p, 3q, but none causing genes has identified. aim to identify mutant gene responsible for this form epilepsy.
Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant condition characterized by cortical tremor and generalized seizures, mapped on chromosome 8q24 Japanese authors. Recently the same phenotype also was reported in European families, with linkage 2. We present a new family suggestion of to 2p11.1-2q12.2 (lod score value, 1.55). This observation would confirm that BAFME worldwide, genetically heterogeneous condition, probably families linked 2p11.1-q12.2.
Anderson-Fabry Disease (FD) is an X-linked lysosomal disorder caused by mutations in GLA, the gene encoding hydrolase α-galactosidase A (α-Gal A), leading to accumulation of glycosphingolipids lysosomes. FD a multisystemic progressive cardiovascular, cerebrovascular and kidney dysfunction. Phenotypes are divided two main classes, classic or non-classic, depending on substrate accumulation, age at onset, disease manifestation, severity progression. The more severe classical phenotype...
The voltage-dependent K+ channels belonging to the ether-à-go-go family (eag, erg, elk) are widely expressed in mammalian CNS. Their neuronal function, however, is poorly understood. Among elk clones, elk2 most abundantly brain. We have characterized human ELK2 channel (HELK2) cell lines. Moreover, we detected helk2 mRNA and ELK2-like currents freshly dissociated astrocytoma cells. HELK2 was inhibited by Cs+ a way (Kd 0.7 mm, at -120 mV). It not affected Way 123398 (5 micro m), dofetilide...
Autosomal Dominant Tubulointerstitial Kidney Disease, a rare genetic disorder characterised by progressive chronic kidney disease, is caused mutations in different genes including REN, encoding renin. Renin secreted protease composed of 3 domains: the leader peptide allowing insertion endoplasmic reticulum (ER), pro-segment regulating its activity, and mature part. Mutations renin lead to ER retention mutant protein late onset while peptide, associated with defective translocation,...