Lista de obras - Davide Mei - Dominio Público Uruguay

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

artículo científico publicado en 2017

A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: Is there a common core deficit?

article published in 2015

Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation

artículo científico publicado en 2005

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

artículo científico publicado en 2018

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

artículo científico publicado en 2013

Bilateral cavitations of ganglionic eminence: a fetal MR imaging sign of halted brain development.

artículo científico publicado en 2013

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).

artículo científico publicado en 2017

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

artículo científico publicado en 2007

CDKL-5 Encephalopathy in an Indian Girl: Partial Response to the Modified Atkins Diet.

artículo científico publicado en 2017

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.

artículo científico publicado en 2011

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 and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation.

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Clinical spectrum of STX1B-related epileptic disorders.

artículo científico publicado en 2019

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms

artículo científico publicado en 2010

Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142]

artículo científico publicado en 2018

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

artículo científico publicado en 2018

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel "de novo" mutation in the DCX gene

artículo científico publicado en 2009

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

artículo científico publicado en 2008

Do mutations in SCN1B cause Dravet syndrome?

artículo científico publicado en 2012

Early clinical features in Dravet syndrome patients with and without SCN1A mutations

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

scientific article published on 02 January 2020

Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study

scientific article published on 18 September 2020

FLNA genomic rearrangements cause periventricular nodular heterotopia

artículo científico publicado en 2012

Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria

artículo científico publicado en 2010

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

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.

artículo científico publicado en 2014

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

artículo científico publicado en 2012

Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy.

artículo científico publicado en 2013

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

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

artículo científico publicado en 2004

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

artículo científico publicado en 2016

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

scientific article published on 09 May 2011

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

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

artículo científico publicado en 2016

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

artículo científico publicado en 2007

Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

artículo científico publicado en 2019

Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.

artículo científico publicado en 2007

Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.

artículo científico publicado en 2015

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

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

artículo científico publicado en 2004

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia ⬇️

artículo científico publicado el 28 de octubre de 2003

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

artículo científico publicado en 2007

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease

artículo científico publicado en 2018

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

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

artículo científico publicado en 2012

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

scientific journal article

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

artículo científico publicado en 2006

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

artículo científico publicado en 2020

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

artículo científico publicado en 2016

Protocadherin 19 mutations in girls with infantile-onset epilepsy

artículo científico publicado en 2010

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

artículo científico publicado en 2009

Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR).

artículo científico publicado en 2012

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

artículo científico publicado en 2011

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy

artículo científico publicado en 2014

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

artículo científico publicado en 2010

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

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

artículo científico publicado en 2018

Lista de obras de Davide Mei

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: Is there a common core deficit?

Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation

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

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

Bilateral cavitations of ganglionic eminence: a fetal MR imaging sign of halted brain development.

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).

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

CDKL-5 Encephalopathy in an Indian Girl: Partial Response to the Modified Atkins Diet.

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.

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 and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation.

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

Clinical spectrum of STX1B-related epileptic disorders.

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms

Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142]

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

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

Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel "de novo" mutation in the DCX gene

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

Do mutations in SCN1B cause Dravet syndrome?

Early clinical features in Dravet syndrome patients with and without SCN1A mutations

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study

FLNA genomic rearrangements cause periventricular nodular heterotopia

Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria

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

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy.

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

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

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

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

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

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

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.

Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

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

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia ⬇️

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

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease

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

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

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

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

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

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

Protocadherin 19 mutations in girls with infantile-onset epilepsy

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

Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR).

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

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

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

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

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

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy