Genomes and Genes
Affiliation: G. Gaslini Institute
- Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataractFederico Zara
Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Italy
Nat Genet 38:1111-3. 2006..We identified mutations in five affected families, resulting in a deficiency of hyccin, a newly identified 521-amino acid membrane protein. Our study highlights the essential role of hyccin in central and peripheral myelination...
- Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significanceFederico Zara
Laboratory of Neurogenetics, Department of Neuroscience, Istituto G Gaslini, Genova, Italy
Epilepsia 54:425-36. 2013....
- The impact of genetics on the classification of epilepsy syndromesFederico Zara
Department of Neuroscience, Laboratory of Neurogenetics, Institute G Gaslini, Genova, Italy
Epilepsia 50:11-4. 2009..Moreover, the discovery of new epilepsy genes may allow assessment of whether different phenotypes are etiologically linked...
- Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutationsMaria Margherita Mancardi
Laboratory of Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Institute G Gaslini, Genova, Italy
Epilepsia 47:1629-35. 2006..We explored the genetic background of SMEI patients carrying SCN1A mutations to further shed light on the genetics of this disorder...
- Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitroMonica Traverso
Muscular and Neurodegenerative Disease Unit, University of Genoa and G Gaslini Paediatric Institute, Genoa, Italy
Lab Invest 88:275-83. 2008..In conclusion, CAV3 T78M and T78K mutations lead to distinct disorders showing different clinical features and inheritance, and displaying distinct phenotypes in vitro...
- Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlationsPasquale Striano
Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, University of Genova, Italy
Epilepsia 48:1092-6. 2007..To determine the occurrence of neuroradiological abnormalities and to perform genotype-phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet syndrome)...
- Phenotypic characterization of hypomyelination and congenital cataractRoberta Biancheri
Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Genova, Italy
Ann Neurol 62:121-7. 2007..3-p15.3...
- Somatic and germline mosaicisms in severe myoclonic epilepsy of infancyElena Gennaro
Laboratory of Muscle Pathology and Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Istituto G Gaslini, University of Genova, Italy
Biochem Biophys Res Commun 341:489-93. 2006..The identification of germline mosaicisms has important consequences in genetic counseling of SMEI when SCN1A mutations appear to occur de novo with standard screening methods...
- Hypomyelination and congenital cataract: identification of novel mutations in two unrelated familiesMonica Traverso
Department of Neuroscience, Istituto Giannina Gaslini, Genova, Italy
Eur J Paediatr Neurol 17:108-11. 2013....
- Linkage analysis and disease models in benign familial infantile seizures: a study of 16 familiesPasquale Striano
Laboratory of Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Istituto G Gaslini, University of Genova, Genova, and Division of Neurology, Ospedale Pediatrico Bambino Gesu, Roma, Italy
Epilepsia 47:1029-34. 2006..Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis...
- Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridizationPasquale Striano
Laboratory of Neurogenetics, Department of Neuroscience, Institute G Gaslini, Largo Gaslini 5, Genoa, Italy
Arch Neurol 69:322-30. 2012..To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy...
- Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutationsPasquale Striano
Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, University of Genoa, Genoa, Italy
Epilepsy Behav 10:187-91. 2007..Definition of the clinical spectrum of this condition will aid in its recognition and have implications for diagnosis and genetic counseling...
- Hypomyelination and congenital cataract: broadening the clinical phenotypeRoberta Biancheri
Department of Neuroscience, G Gaslini Institute, Genova, Italy
Arch Neurol 68:1191-4. 2011..To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A...
- POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrumRoberta Biancheri
Muscular and Neurodegenerative Disease Unit, Department of Neuroscience and Rehabilitation, University of Genova, Italy
Arch Neurol 63:1491-5. 2006..Muscle-eye-brain disease is a congenital muscular dystrophy with eye and brain involvement due to POMGnT1 mutations...
- Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneityElena Gennaro
Laboratory of Human Genetics, E O Galliera Hospital, Genova, Italy
Epileptic Disord 5:21-5. 2003..In order to further investigate the role of SCN1A and GABRG2 in the pathogenesis of SMEI we have screened for mutations three families with at least two members affected by Dravet syndrome...
- TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsyAntonio Falace
Department of Neuroscience, Institute G Gaslini and University of Genova, Italy
Am J Hum Genet 87:365-70. 2010....
- PRRT2 is mutated in familial and non-familial benign infantile seizuresNicola Specchio
Neurology Unit, Department of Neuroscience, Bambino Gesu Children s Hospital, IRCCS, P zza S Onofrio 4, 00165 Rome, Italy
Eur J Paediatr Neurol 17:77-81. 2013..Mutations of protein-rich transmembrane protein 2 (PRRT2) were recently associated to benign familial infantile seizures (BFIS) (MIM 605751) and paroxysmal kinesigenic dyskinesias (PKD) (MIM12800)...
- Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsyNicola Vanni
Department of Neuroscience, Institute G Gaslini, Genoa, Italy
Ann Neurol 76:206-12. 2014..Alterations of sphingolipid metabolism are implicated in the pathogenesis of many neurodegenerative disorders...
- EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvementRoberta Biancheri
Neuroscience Department, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genoa, Italy
J Neurol 260:1866-70. 2013..These findings strongly suggest that analysis of the EXOSC3 gene should be recommended also in patients with spinal anterior horn involvement and isolated cerebellar hypoplasia...
- Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal proteinElisabetta Gazzerro
Muscular and Neurodegenerative Disease Unit, G Gaslini Institute, University of Genoa, Genoa, Italy
PLoS ONE 7:e32180. 2012..As Hyccin is primarily expressed in neurons and its mutation leads to hypomyelination in human patients, we suggest that the protein is involved in neuron-to-glia signalling to initiate or maintain myelination...
- Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutationNune S Yeghiazaryan
Muscular and Neurodegenerative Disease Unit and Laboratory of Neurogenetics, Institute G Gaslini, University of Genova, Genova, Italy
Eur J Paediatr Neurol 15:547-50. 2011..Mutations in the antiquitin (ALDH7A1) gene have recently reported to cause PDS in most of patients. We report the long-term follow-up in two PDS siblings carrying a novel ALDH7A1 mutation...
- Refractory, life-threatening status epilepticus in a 3-year-old girlPasquale Striano
Unit of Muscular and Neurodegenerative Diseases, G Gaslini Institute, Genova, Italy
Lancet Neurol 7:278-84. 2008
- POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changesRoberta Biancheri
Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Largo Gaslini 5, 16147 Genova, Italy
Biochem Biophys Res Commun 363:1033-7. 2007..Muscle biopsy revealed myopathic and inflammatory changes and severe alpha-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N...
- Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular DystrophyRiccardo Papa
Paediatric Neurology and Neuromuscular Disorders Unit, Istituto G Gaslini, Genoa, Italy
Pediatr Neurol 55:58-63. 2016..Clinical features of DMD carriers during childhood are poorly known...
- Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatmentStefania Assereto
Muscular and Neurodegenerative Disease Unit, University of Genoa and G Gaslini Pediatric Institute, Genoa, Italy
Am J Physiol Cell Physiol 290:C577-82. 2006..Am J Pathol 163: 1663-1675, 2003). Our present results may have important new implications for the possible pharmacological treatment of Duchenne or Becker muscular dystrophy in humans...
- Inherited neuromyotonia: a clinical and genetic study of a familyAntonio Falace
Neuromuscular and Neurodegenerative Disease Unit, University of Genova, G Gaslini Institute, Genova, Italy
Neuromuscul Disord 17:23-7. 2007..Further studies of familial cases will shed light on the molecular basis of inherited neuromyotonia...
- Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literatureMarianna Pezzella
Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, Genova, Italy
Seizure 19:132-5. 2010..The literature data about the electroclinical features of epilepsy in GMS are also reviewed...
- Familial benign nonprogressive myoclonic epilepsiesPasquale Striano
Muscular and Neurodegenerative Diseases Unit, G Gaslini Institute, University of Genova, Genova, Italy
Epilepsia 50:37-40. 2009....
- McArdle disease: the mutation spectrum of PYGM in a large Italian cohortClaudio Bruno
Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Genova, Italy
Hum Mutat 27:718. 2006..R50X) accounted for about 43% of alleles in our cohort and that no population-related mutations are clearly identified in Italian patients...
- No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancyFrancesca Madia
Laboratory of Human Genetics, E O Ospedali Galliera, Genova, Italy
Epilepsy Res 53:196-200. 2003..Our study demonstrates that GABRG2 is not a commonly involved in the etiology of SMEI and suggests that other and yet unidentified genes are involved in the syndrome..
- White matter involvement in a family with a novel PDGFB mutationRoberta Biancheri
Dubowitz Neuromuscular Service R B, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom Unit of Neuroradiology M S, Laboratorio di Neurogenetica e Neuroscienze A R, M I, F Z, G Gaslini Institute, Genova, Italy Neurology Unit M D S, E O Galliera Hospital, Genova, Italy Pediatric Neurology and Muscular Diseases Unit C M, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G Gaslini Institute, Genova, Italy and Department of Advanced Biomedical Sciences M C, M D B D C, Federico II University, Naples, Italy
Neurol Genet 2:e77. 2016..1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5). ..
- A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disabilityFrancesco Miceli
Unit of Pharmacology, Department of Neuroscience, Reproductive Science and Dentistry, University of Naples Federico II, Naples, Italy
Epilepsia 56:e15-20. 2015....
- Autosomal recessive benign myoclonic epilepsy of infancyFederico Zara
Laboratory of Neurogenetics, Department of Neuroscience and Rehabilitation, Institute G Gaslini, Genova, Italy
Adv Neurol 95:139-45. 2005
- Therapeutic potential of proteasome inhibition in Duchenne and Becker muscular dystrophiesElisabetta Gazzerro
University of Genoa, G Gaslini Institute, Largo G Gaslini 5, I 16147 Genoa, Italy
Am J Pathol 176:1863-77. 2010....
- Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonusLaura Canafoglia
From the Department of Neurophysiopathology and Epilepsy Centre L C, F P, S F, Department of Neurology D P, L N, Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit A R G, and Biochemistry and Genetics Department A V, C G, IRCCS Foundation C Besta Neurological Institute, Milan and Laboratory of Neurogenetics A R, F Z, Department of Neuroscience, Institute G Gaslini, Genoa, Italy
Neurology 82:2003-6. 2014..Both probands had 2 siblings displaying a similar disorder. Extensive laboratory examinations, including biochemical assessment for urine sialic acid in the 2 probands, were negative...
- Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new casesPasquale Striano
Neuromuscular and Neurodegenerative Disease Unit, G Gaslini Institute, University of Genova, Genova, Italy
Am J Med Genet A 140:1944-9. 2006..The awareness of the distinctive clinical picture will help in the diagnosis of this chromosomal abnormality...
- Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizuresNune S Yeghiazaryan
Armenian Republican Epilepsy Centre Erebouni, Yerevan State Medical University, Yerevan, Armenia
J Paediatr Child Health 48:E113-5. 2012..However, early consideration of a pyridoxine trial remains the most important issue in a neonate or in an infant with intractable early onset seizures...
- Genetic epileptic encephalopathies: is all written into the DNA?Pasquale Striano
Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, Institute G Gaslini, University of Genova, Genoa, Italy
Epilepsia 54:22-6. 2013..Data from the laboratory and the clinics may provide greater insight into the degree to which epileptic activity may contribute to cognitive impairment in individual syndromes. ..
- Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathyAldobrando Broccolini
Department of Neuroscience, Catholic University, Rome, Italy
Hum Mutat 23:632. 2004..Interestingly, in two of our families distinct mutations affected nucleotide c.616 in exon 3 (c.616delG and c.616G>A). The possibility of specific portions of the gene being more prone to mutations remains to be elucidated...
- Xp11.22 Microduplications Including HUWE1: Case Report and Literature ReviewSonia Orivoli
Child Neuropsychiatry Unit, Department of Neuroscience, University Hospital of Parma, Parma, Italy
Neuropediatrics 47:51-6. 2016..Nevertheless, further investigations and a more detailed examination of patients' clinical history are needed to clear up other eventual genotype-phenotype correlations, such as the presence of epilepsy/epileptiform EEG abnormalities. ..
- Lack of SCN1A mutations in familial febrile seizuresMichela Malacarne
Laboratory of Human Genetics, E O Ospedali Galliera, Genova, Italy
Epilepsia 43:559-62. 2002..The present study assessed the role of SCN1A in familial typical FSs...
- Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absencesAngelo Labate
Institute of Neurology, University Magna Graecia, Catanzaro, Italy
Epilepsia 53:e196-9. 2012..Moreover, it suggests an additive effect of double dose of the genetic mutation and underscores the complexity of the phenotypic consequences of mutations in this gene...