Federico Zara

Summary

Affiliation: G. Gaslini Institute
Country: Italy

Publications

  1. ncbi request reprint Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
    Federico Zara
    Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Italy
    Nat Genet 38:1111-3. 2006
  2. doi request reprint Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance
    Federico Zara
    Laboratory of Neurogenetics, Department of Neuroscience, Istituto G Gaslini, Genova, Italy
    Epilepsia 54:425-36. 2013
  3. doi request reprint The impact of genetics on the classification of epilepsy syndromes
    Federico Zara
    Department of Neuroscience, Laboratory of Neurogenetics, Institute G Gaslini, Genova, Italy
    Epilepsia 50:11-4. 2009
  4. doi request reprint Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro
    Monica Traverso
    Muscular and Neurodegenerative Disease Unit, University of Genoa and G Gaslini Paediatric Institute, Genoa, Italy
    Lab Invest 88:275-83. 2008
  5. ncbi request reprint Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations
    Pasquale Striano
    Muscular and Neurodegenerative Disease Unit, Institute G Gaslini, University of Genova, Italy
    Epilepsia 48:1092-6. 2007
  6. ncbi request reprint Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations
    Maria Margherita Mancardi
    Laboratory of Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Institute G Gaslini, Genova, Italy
    Epilepsia 47:1629-35. 2006
  7. ncbi request reprint Phenotypic characterization of hypomyelination and congenital cataract
    Roberta Biancheri
    Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Genova, Italy
    Ann Neurol 62:121-7. 2007
  8. ncbi request reprint Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy
    Elena 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
  9. doi request reprint Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families
    Monica Traverso
    Department of Neuroscience, Istituto Giannina Gaslini, Genova, Italy
    Eur J Paediatr Neurol 17:108-11. 2013
  10. doi request reprint Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization
    Pasquale Striano
    Laboratory of Neurogenetics, Department of Neuroscience, Institute G Gaslini, Largo Gaslini 5, Genoa, Italy
    Arch Neurol 69:322-30. 2012

Detail Information

Publications35

  1. ncbi request reprint Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
    Federico 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...
  2. doi request reprint Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance
    Federico Zara
    Laboratory of Neurogenetics, Department of Neuroscience, Istituto G Gaslini, Genova, Italy
    Epilepsia 54:425-36. 2013
    ....
  3. doi request reprint The impact of genetics on the classification of epilepsy syndromes
    Federico 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...
  4. doi request reprint Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro
    Monica 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...
  5. ncbi request reprint Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations
    Pasquale 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)...
  6. ncbi request reprint Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations
    Maria 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...
  7. ncbi request reprint Phenotypic characterization of hypomyelination and congenital cataract
    Roberta Biancheri
    Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Genova, Italy
    Ann Neurol 62:121-7. 2007
    ..3-p15.3...
  8. ncbi request reprint Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy
    Elena 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...
  9. doi request reprint Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families
    Monica Traverso
    Department of Neuroscience, Istituto Giannina Gaslini, Genova, Italy
    Eur J Paediatr Neurol 17:108-11. 2013
    ....
  10. doi request reprint Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization
    Pasquale 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...
  11. ncbi request reprint Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families
    Pasquale 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...
  12. ncbi request reprint Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations
    Pasquale 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...
  13. doi request reprint Hypomyelination and congenital cataract: broadening the clinical phenotype
    Roberta 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...
  14. ncbi request reprint Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity
    Elena 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...
  15. pmc TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
    Antonio Falace
    Department of Neuroscience, Institute G Gaslini and University of Genova, Italy
    Am J Hum Genet 87:365-70. 2010
    ....
  16. ncbi request reprint POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum
    Roberta 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...
  17. doi request reprint PRRT2 is mutated in familial and non-familial benign infantile seizures
    Nicola 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)...
  18. pmc Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein
    Elisabetta 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...
  19. doi request reprint Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation
    Nune 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...
  20. doi request reprint Refractory, life-threatening status epilepticus in a 3-year-old girl
    Pasquale Striano
    Unit of Muscular and Neurodegenerative Diseases, G Gaslini Institute, Genova, Italy
    Lancet Neurol 7:278-84. 2008
  21. ncbi request reprint Inherited neuromyotonia: a clinical and genetic study of a family
    Antonio 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...
  22. ncbi request reprint POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes
    Roberta 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...
  23. doi request reprint Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature
    Marianna 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...
  24. doi request reprint Familial benign nonprogressive myoclonic epilepsies
    Pasquale Striano
    Muscular and Neurodegenerative Diseases Unit, G Gaslini Institute, University of Genova, Genova, Italy
    Epilepsia 50:37-40. 2009
    ....
  25. ncbi request reprint McArdle disease: the mutation spectrum of PYGM in a large Italian cohort
    Claudio 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...
  26. ncbi request reprint Autosomal recessive benign myoclonic epilepsy of infancy
    Federico Zara
    Laboratory of Neurogenetics, Department of Neuroscience and Rehabilitation, Institute G Gaslini, Genova, Italy
    Adv Neurol 95:139-45. 2005
  27. ncbi request reprint No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy
    Francesca 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..
  28. ncbi request reprint Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment
    Stefania 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...
  29. pmc Therapeutic potential of proteasome inhibition in Duchenne and Becker muscular dystrophies
    Elisabetta Gazzerro
    University of Genoa, G Gaslini Institute, Largo G Gaslini 5, I 16147 Genoa, Italy
    Am J Pathol 176:1863-77. 2010
    ....
  30. doi request reprint EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement
    Roberta 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...
  31. ncbi request reprint Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
    Pasquale 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...
  32. doi request reprint Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures
    Nune 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...
  33. ncbi request reprint Lack of SCN1A mutations in familial febrile seizures
    Michela 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...
  34. ncbi request reprint Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy
    Aldobrando 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...
  35. doi request reprint Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences
    Angelo 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...