Lista de obras -

"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency

artículo científico publicado el 1 de septiembre de 2011

A novel GABRG2 mutation associated with febrile seizures

artículo científico publicado en 2006

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

artículo científico publicado en 2012

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

artículo científico publicado en 2010

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

artículo científico publicado en 2011

Do mutations in SCN1B cause Dravet syndrome?

artículo científico publicado en 2012

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

artículo científico publicado en 2014

Early and effective treatment of KCNQ2 encephalopathy.

artículo científico publicado en 2015

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

artículo científico publicado en 2009

Epilepsy as part of the phenotype associated with ATP1A2 mutations

scientific article published on 19 November 2007

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

artículo científico publicado en 2013

Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q.

artículo científico publicado en 2007

Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene.

artículo científico publicado en 2010

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

artículo científico publicado en 2014

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

artículo científico publicado en 2014

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

scientific article published on 09 May 2011

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.

artículo científico publicado en 2015

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

artículo científico publicado en 2012

Lessons learned from gene identification studies in Mendelian epilepsy disorders.

artículo científico publicado en 2015

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

artículo científico publicado en 2016

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

scientific journal article

Memory CD4 T cell receptor repertoire data mining as a tool for identifying cytomegalovirus serostatus

scientific article published on 15 June 2018

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

artículo científico publicado en 2006

Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.

artículo científico publicado en 2010

PRRT2 mutations: exploring the phenotypical boundaries.

artículo científico publicado en 2013

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

artículo científico publicado en 2011

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

artículo científico publicado en 2016

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

artículo científico publicado en 2014

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

artículo científico publicado en 2017

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

artículo científico publicado en 2016

The SCN1A variant database: a novel research and diagnostic tool.

artículo científico publicado en 2009

The genetics of Dravet syndrome.

artículo científico publicado en 2011

The role of SLC2A1 in early onset and childhood absence epilepsies.

artículo científico publicado en 2013

Lista de obras de

"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency

A novel GABRG2 mutation associated with febrile seizures

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Do mutations in SCN1B cause Dravet syndrome?

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

Early and effective treatment of KCNQ2 encephalopathy.

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

Epilepsy as part of the phenotype associated with ATP1A2 mutations

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q.

Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene.

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

Lessons learned from gene identification studies in Mendelian epilepsy disorders.

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

Memory CD4 T cell receptor repertoire data mining as a tool for identifying cytomegalovirus serostatus

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.

PRRT2 mutations: exploring the phenotypical boundaries.

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

The SCN1A variant database: a novel research and diagnostic tool.

The genetics of Dravet syndrome.

The role of SLC2A1 in early onset and childhood absence epilepsies.