List of works - Federico Zara

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

scientific article

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

scientific article

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

scientific article (publication date: 24 June 2003)

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

scientific article

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

scientific article

Genetic testing in the epilepsies--report of the ILAE Genetics Commission

scientific article

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

scientific article

The genetics of Dravet syndrome.

scientific article published on April 2011

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

scientific article

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

scientific article

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

scientific article

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

scientific article published on 12 March 2009

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

scientific article published on 29 January 2013

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

scientific article

Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

scientific article published in October 2006

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

scientific article published on 06 September 2013

Mapping of genes predisposing to idiopathic generalized epilepsy

scientific article published on 01 July 1995

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

scientific article

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

scientific article published on 12 April 2013

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway

scientific journal article

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

scientific article published in 2006

PRRT2 mutations are the major cause of benign familial infantile seizures.

scientific article published on 11 June 2012

An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy

scientific article published on 16 July 2007

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

scientific article (publication date: 28 March 2000)

PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.

scientific article

Mutations in KCNT1 cause a spectrum of focal epilepsies.

scientific article

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

scientific article published on 25 January 2012

Therapeutic potential of proteasome inhibition in Duchenne and Becker muscular dystrophies

scientific article

Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment

scientific article

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

scientific article published on 25 March 2013

Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients.

scientific article published on 24 October 2009

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane

scientific journal article

Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

scientific article published on 22 March 2007

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

scientific article

Progressive myoclonic epilepsies: definitive and still undetermined causes.

scientific article published on 02 January 2014

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

scientific article published on 5 November 2015

West syndrome associated with 14q12 duplications harboring FOXG1

scientific article published on 2 May 2011

Exploration of the genetic architecture of idiopathic generalized epilepsies

scientific article published in October 2006

Dramatic response to levetiracetam in post-ischaemic Holmes' tremor.

scientific article published on April 2007

Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy

scientific article published on 20 March 2009

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

scientific article

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

scientific article published on 14 November 2011

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

scientific article published in March 2006

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

scientific article

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

scientific article published on 19 December 2014

Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation

scientific article published on 01 October 2005

Typical progression of myoclonic epilepsy of the Lafora type: a case report.

scientific article

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.

scientific article published on 20 May 2014

A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy

scientific article published in May 2011

List of works by Federico Zara

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

Genetic testing in the epilepsies--report of the ILAE Genetics Commission

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

The genetics of Dravet syndrome.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Mapping of genes predisposing to idiopathic generalized epilepsy

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

PRRT2 mutations are the major cause of benign familial infantile seizures.

An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.

Mutations in KCNT1 cause a spectrum of focal epilepsies.

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

Therapeutic potential of proteasome inhibition in Duchenne and Becker muscular dystrophies

Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients.

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane

Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

Progressive myoclonic epilepsies: definitive and still undetermined causes.

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

West syndrome associated with 14q12 duplications harboring FOXG1

Exploration of the genetic architecture of idiopathic generalized epilepsies

Dramatic response to levetiracetam in post-ischaemic Holmes' tremor.

Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation

Typical progression of myoclonic epilepsy of the Lafora type: a case report.

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.

A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy