List of works - Davide Mei

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

scientific article published on 29 November 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

scientific article

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

scientific article published on 19 April 2018

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

scientific article

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

scientific article published on 18 April 2013

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

scientific article published on 28 October 2017

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

scientific article published on 22 March 2007

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

scientific article

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

scientific article published on 11 February 2011

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

scientific article

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

scientific article published on 15 February 2017

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

scientific article published in June 2013

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

scientific article published on 11 December 2017

Clinical spectrum of STX1B-related epileptic disorders.

scientific article published on 8 February 2019

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

scientific article published on 10 December 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]

scientific article published on 14 March 2018

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

scientific article

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

scientific article published on 19 November 2018

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

scientific article published on 19 November 2016

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

scientific article published on 19 July 2009

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

scientific article

Do mutations in SCN1B cause Dravet syndrome?

scientific article

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

scientific article published on 11 January 2012

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

scientific article published on 01 September 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

scientific article published on 9 March 2015

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

scientific article

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

scientific article

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

scientific article published on 9 July 2013

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

scientific article published on February 2004

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

scientific article published on 01 July 2004

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

scientific article published on 31 October 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

scientific article published on 01 November 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.

scientific article published on July 2016

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

scientific article

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

scientific article published on 13 October 2012

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

scientific article published on 11 April 2011

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

scientific article published on 29 October 2019

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

scientific article published in August 2007

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

scientific article published on 14 July 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.

scientific article published on 28 July 2004

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia ⬇️

scientific article published on October 28, 2003

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

scientific article published in February 2007

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

scientific article published on 09 November 2018

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

scientific article published in July 2003

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

scientific article published on 29 September 2014

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

scientific article

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

scientific article published on 9 May 2006

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

scientific article published on 29 May 2020

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

scientific article

Protocadherin 19 mutations in girls with infantile-onset epilepsy

scientific article published in August 2010

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

scientific article published on 12 March 2009

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

scientific article published in September 2012

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

scientific article

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

scientific article

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

scientific article published on 30 July 2016

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

scientific article published on 14 February 2017

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

scientific article

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

scientific article published on 18 November 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

scientific article

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

scientific article published on 12 December 2018

List of works by 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