E. Parrini

发表

Epilepsy in Rett syndrome, and CDKL5‐ and FOXG1‐gene–related encephalopathies

R. Guerrini, E. Parrini, 2012, Epilepsia.

Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy

G. Cantalupo, R. Guerrini, D. Mei, 2021, American journal of medical genetics. Part A.

Ethan M. Goldberg, Christopher H. Thompson, C. H. Thompson, 2020, Annals of neurology.

Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes

J. Wheless, D. Pilz, W. Dobyns, 2003, Journal of medical genetics.

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

R. Guerrini, D. Mei, C. Marini, 2017, Molecular Diagnosis & Therapy.

The spectrum of brain malformations and disruptions in twins

I. Glass, R. Hevner, W. Dobyns, 2020, American journal of medical genetics. Part A.

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

Renzo Guerrini, Patrick Nitschke, Elena Fontana, 2013, Nature Genetics.

Cortical dysplasias of genetic origin

R. Guerrini, V. Conti, D. Mei, 2009 .

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

I. Scheffer, H. Mefford, G. Cioni, 2021, Brain : a journal of neurology.

Lesional and non-lesional epilepsies: A blurring genetic boundary.

R. Guerrini, V. Conti, E. Parrini, 2019, European journal of paediatric neurology.

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

E. Veneselli, F. Gurrieri, M. Di Rocco, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

Renzo Guerrini, Dalila De Vita, Carla Marini, 2017, Neurology: Genetics.

A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data

A. Guzzetta, V. Cetica, S. Fiori, 2019, Front. Pediatr..

Reelin and Lissencephaly

R. Guerrini, E. Parrini, 2008 .

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

R. Guerrini, D. Mei, O. Zuffardi, 2010, Epilepsia.

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Colin A. Ellis, M. Daly, I. Scheffer, 2020, Brain : a journal of neurology.

Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy

G. Cantalupo, R. Guerrini, B. dalla Bernardina, 2021, Neurology: Genetics.

GNAO1 encephalopathy

N. Mahant, E. Valente, F. Raymond, 2017, Neurology: Genetics.

Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

M. Delledonne, R. Guerrini, D. Mei, 2020, Scientific Reports.

Enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

M. Delledonne, R. Guerrini, D. Mei, 2019, bioRxiv.

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

R. Guerrini, D. Mei, T. Dorn, 2004, Neurogenetics.

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

E. Aronica, O. Reiner, L. M. Valor, 2020, Nature Reviews Neurology.

Malformations of Cortical Development in Newborns: Genetic Aspects

R. Guerrini, E. Parrini, 2018 .

PMG: Polymicrogyria BFPP: Bilateral frontoparietal PMG BPP: Bilateral perisylvian PMG CNV: copy number variants EEG: Electroencephalogram ILS: isolated LIS LIS: Lissencephaly MCD: Malformations of cortical development MLPA: Multiplex Ligation-dependent Probe Amplification MRI: Magnetic resonance ima

E. Parrini, 2015 .

Malformations of Cortical Development: Genetic Aspects

R. Guerrini, E. Parrini, 2012 .

Periventricular nodular heterotopia in Smith‐Magenis syndrome

P. Striano, V. Capra, R. Biancheri, 2014, American journal of medical genetics. Part A.

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

R. Guerrini, D. Mei, S. Giglio, 2011, American journal of medical genetics. Part A.

GENETICS | Single Gene Mutations Causing Epileptogenic Malformations of the Cerebral Cortex

R. Guerrini, E. Parrini, P. Sgadò, 2009 .

Lissencephaly Type I and Periventricular Heterotopia

R. Guerrini, E. Parrini, 2009 .

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

M. Cosottini, C. Barba, L. Grisotto, 2016, Neurology.

Subcortical band heterotopia with simplified gyral pattern and syndactyly

R. Guerrini, F. Sicca, G. Ferrero, 2003, American journal of medical genetics. Part A.

Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations

F. Zara, R. Guerrini, D. Mei, 2004, Epilepsia.

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

C. Barba, R. Guerrini, D. Mei, 2014, Epilepsia.

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

E. Ricci, M. Masciullo, G. Silvestri, 2018, European journal of neurology.

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

A. Pagnamenta, A. Represa, Jenny C. Taylor, 2017, Journal of visualized experiments : JoVE.

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

R. Guerrini, D. Mei, G. Tortorella, 2007, Neurology.

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

R. Guerrini, D. Mei, E. Parrini, 2012, European Journal of Human Genetics.

CHLAMYDIA INFECTION

A. L. Wong, J. Belmont, F. Lammert, 2001 .

Defining causal variants in rare epilepsies: An essential team effort between biomedical scientists, geneticists and epileptologists.

D. Mei, S. Zuberi, G. Barcia, 2022, European journal of medical genetics.

Lissencephaly: Expanded imaging and clinical classification

Renzo Guerrini, William B Dobyns, A James Barkovich, 2017, American journal of medical genetics. Part A.

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

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

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

C. Barba, R. Guerrini, D. Mei, 2017, Human mutation.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Michael R. Johnson, S. Gabriel, M. Daly, 2019, bioRxiv.

Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

M. Delledonne, R. Guerrini, D. Mei, 2020, Scientific Reports.

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

R. Guerrini, D. Mei, A. Vetro, 2020, Neurology: Genetics.

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Josemir W Sander, C. Walsh, P. Striano, 2006, Brain : a journal of neurology.

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

I. Scheffer, E. Bertini, R. Guerrini, 2009, Neurology.

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

M. Fichera, R. Guerrini, V. Conti, 2019, European Journal of Human Genetics.

GNAO1 encephalopathy Broadening the phenotype and evaluating treatment and outcome

N. Mahant, E. Valente, F. Raymond, 2022 .

Crystal structure of the TLDc domain of Skywalker/TBC1D24 from Drosophila melanogaster

P. Verstreken, P. Aridon, W. Versées, 2019 .

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

C. Cianchetti, P. Aridon, C. Di Resta, 2006, American journal of human genetics.

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

I. Scheffer, A. Pagnamenta, F. Michel, 2013, Brain : a journal of neurology.

Periventricular heterotopia in 6 q terminal deletion syndrome : role of the C 6 orf 70 gene

I. Scheffer, A. Pagnamenta, F. Michel, 2013 .

Somatic mutations in cerebral cortical malformations.

J. Shendure, I. Scheffer, C. Walsh, 2014, The New England journal of medicine.

Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy.

N. Brunetti‐Pierri, M. Pinelli, P. Bernardo, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

FLNA genomic rearrangements cause periventricular nodular heterotopia

T. Yu, C. V. van Karnebeek, R. Guerrini, 2012, Neurology.

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

D. Pilz, R. Guerrini, D. Mei, 2008, Journal of Medical Genetics.

implications for molecular diagnosis gene in lissencephaly: LIS1 duplicationin the High frequency of genomic deletionsand a

D. Pilz, R. Guerrini, D. Mei, 2008 .

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

G. Carvill, D. Ledbetter, M. Ross, 2018, Genetics in Medicine.

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

Beth K. Martin, J. Shendure, K. Friend, 2015, The Lancet Neurology.

Co‐occurring malformations of cortical development and SCN1A gene mutations

P. Striano, I. Blumcke, C. Barba, 2014, Epilepsia.

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

R. Guerrini, D. Mei, C. Marini, 2019, Epilepsy & Behavior.

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

D. Zélénika, P. Nitschké, D. Lacombe, 2013, Nature Genetics.

Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene

R. Guerrini, C. Parazzini, G. Palumbo, 2021, American journal of medical genetics. Part A.

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

E. van Binsbergen, W. Dobyns, N. Matsumoto, 2017, Brain : a journal of neurology.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

M. Tartaglia, L. Garavelli, R. Guerrini, 2021, Genes.

Functional characterization of RELN missense mutations involved in recessive and dominant forms of Neuronal Migration Disorders

A. Pierani, R. Guerrini, F. Causeret, 2021, bioRxiv.

Cerebral malformations

R. Guerrini, E. Parrini, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.

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

R. Guerrini, D. Mei, N. Bartalucci, 2018, American journal of medical genetics. Part A.

Deciphering the premature mortality in PIGA-CDG – An untold story

Z. Tümer, G. Rubboli, R. Møller, 2020, Epilepsy Research.

Genetic Basis of Brain Malformations

W. Dobyns, R. Guerrini, V. Conti, 2016, Molecular Syndromology.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

I. Scheffer, H. Mefford, A. Munnich, 2020, Epilepsia.

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

K. Hamacher, C. Mercer, P. Striano, 2018, Brain : a journal of neurology.

M. Mastrangelo, V. Leuzzi, E. Parrini, 2018, American journal of medical genetics. Part A.

Neuronal migration disorders

R. Guerrini, E. Parrini, 2010, Neurobiology of Disease.

Malformations of the Cerebral Cortex as a Cause of Mental Retardation and Epilepsy: Anatomoclinical and Genetic Spectrum*

R. Guerrini, C. Marini, E. Parrini, 2006 .

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

G. Avanzini, L. Grisotto, V. Cetica, 2017, Neurology.

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

C. Depienne, A. Afenjar, A. Jezela-Stanek, 2020, Epilepsia.

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

F. Dubeau, F. Andermann, Soma Das, 2003, Annals of neurology.

Bilateral frontoparietal polymicrogyria, Lennox‐Gastaut syndrome, and GPR56 gene mutations

R. Guerrini, T. Dorn, E. Parrini, 2009, Epilepsia.

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

I. Scheffer, S. Robertson, F. Andermann, 2012, Neurology.

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

D. Zélénika, P. Nitschké, D. Lacombe, 2013, Nature Genetics.

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

C. Walsh, Ming-Hui Chen, S. Robertson, 2005, Neurology.

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

S. Sisodiya, B. Harding, W. Dobyns, 2004, Neurology.

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

E. Bertini, M. Mascalchi, R. Guerrini, 2015, Journal of Medical Genetics.

Autosomal Dominant Early‐onset Cortical Myoclonus, Photic‐induced Myoclonus, and Epilepsy in a Large Pedigree

E. Gardella, R. Guerrini, R. Liguori, 2006, Epilepsia.

Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome.

G. Cantalupo, N. Nardocci, R. Guerrini, 2021, Epileptic disorders.

Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations

V. Cetica, R. Guerrini, M. Calisesi, 2022, Fetal and pediatric pathology.

Clinical and genetic factors predicting Dravet syndrome in infants with SCN 1 A mutations

G. Avanzini, L. Grisotto, V. Cetica, 2022 .

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1.

R. Guerrini, D. Mei, E. Parrini, 2023, American journal of medical genetics. Part C, Seminars in medical genetics.

Chronic Idiopathic Intestinal Pseudo-obstruction

A. L. Wong, J. Belmont, M. Dichgans, 2011 .

[Cutaneous amyloidoses].

A. L. Wong, J. Belmont, D. Roden, 1990, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

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

G. Carvill, D. Ledbetter, M. Ross, 2018, Genetics in Medicine.

[Chronic venous insufficiency].

V Wienert, G Hauer, A Lentner, 1996, Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen.

corr igenda Corrigendum : Mutations in TUBG 1 , DYNC 1 H 1 , KIF 5 C and KIF 2 A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013 .

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Ethan M. Goldberg, Andreas M. Koupparis, W. C. Stewart, 2023, Nature Genetics.

Congenital rubella syndrome

S. Lalani, K. Chayama, A. Cleare, 2020, Definitions.

Congenital dysfibrinogenemia.

S. Lalani, K. Chayama, A. Cleare, 1984, Current problems in clinical biochemistry.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

S. Lalani, K. Chayama, M. Vikkula, 1999, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

P. Verstreken, P. Aridon, W. Versées, 2019, Brain : a journal of neurology.

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

D. Mei, L. Parmeggiani, C. Costa, 2017, Neurology: Genetics.

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

E. Parrini, T. Pisano, F. Melani, 2024, American journal of medical genetics. Part C, Seminars in medical genetics.

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

C. Barba, R. Guerrini, D. Mei, 2014, Epilepsia.

Diaper changing-induced reflex seizures in CDKL5-related epilepsy.

G. Cantalupo, B. dalla Bernardina, E. Parrini, 2018, Epileptic disorders : international epilepsy journal with videotape.