Lista de obras - Elena Parrini - Dominio Público Uruguay

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

artículo científico publicado en 2017

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

artículo científico publicado en 2018

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

artículo científico publicado en 2018

Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree

artículo científico publicado en 2006

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

artículo científico publicado en 2015

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

artículo científico publicado en 2017

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

artículo científico publicado en 2017

Co-occurring malformations of cortical development and SCN1A gene mutations

artículo científico publicado en 2014

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

artículo científico publicado en 2017

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

artículo científico publicado en 2016

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

scientific article published on 02 January 2020

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

artículo científico

Erratum: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

article

FLNA genomic rearrangements cause periventricular nodular heterotopia

artículo científico publicado en 2012

Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation

scientific article published on 25 August 2018

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects

artículo científico publicado en 2015

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

artículo científico publicado en 2017

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations

artículo científico publicado en 2004

Genetic Basis of Brain Malformations

artículo científico publicado en 2016

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

artículo científico publicado en 2018

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis

article

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.

artículo científico publicado en 2011

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

artículo científico publicado en 2006

International consensus recommendations on the diagnostic work-up for malformations of cortical development

artículo científico publicado en 2020

Lessons learned from 40 novel PIGA patients and a review of the literature

scientific article published on 26 May 2020

Lissencephaly: Expanded imaging and clinical classification.

artículo científico publicado en 2017

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

artículo científico publicado en 2004

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

artículo científico publicado en 2019

Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia

artículo científico publicado en 2007

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

scientific article published on 21 April 2013

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

artículo científico publicado en 2020

Neuronal migration disorders

artículo científico publicado en 2009

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations

artículo científico publicado en 2003

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys

artículo científico publicado en 2014

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

artículo científico publicado en 2012

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

scientific journal article

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

artículo científico publicado en 2008

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

artículo científico publicado en 2006

Periventricular nodular heterotopia in Smith-Magenis syndrome

artículo científico publicado en 2014

SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

artículo científico publicado en 2020

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

artículo científico publicado en 2017

Somatic mutations in cerebral cortical malformations

artículo científico publicado en 2014

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

artículo científico publicado en 2012

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

artículo científico publicado en 2017

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.

artículo científico publicado en 2016

What is the role of next generation sequencing in status epilepticus?

scientific article published on 09 July 2019

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

artículo científico publicado en 2010

Lista de obras de Elena Parrini

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

Co-occurring malformations of cortical development and SCN1A gene mutations

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

Erratum: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

FLNA genomic rearrangements cause periventricular nodular heterotopia

Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations

Genetic Basis of Brain Malformations

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

International consensus recommendations on the diagnostic work-up for malformations of cortical development

Lessons learned from 40 novel PIGA patients and a review of the literature

Lissencephaly: Expanded imaging and clinical classification.

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Neuronal migration disorders

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

Periventricular nodular heterotopia in Smith-Magenis syndrome

SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

Somatic mutations in cerebral cortical malformations

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.

What is the role of next generation sequencing in status epilepticus?

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy