C. Marini

发表

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

Michael R. Johnson, I. Scheffer, H. Mefford, 2014, American journal of human genetics.

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

Gene family information facilitates variant interpretation and identification of disease-associated genes

M. Daly, P. May, R. Krause, 2017, bioRxiv.

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

R. Guerrini, D. Lettori, V. Conti, 2012, Neurology.

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene

B. Castellotti, R. Møller, C. Gellera, 2020, Epilepsia.

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.

The phenotype of SCN8A developmental and epileptic encephalopathy

I. Scheffer, G. Rubboli, R. Møller, 2018, Neurology.

Mutations in GABRB3

Ingo Borggraefe, Holger Lerche, Renzo Guerrini, 2017, Neurology.

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.

Phenotypic spectrum of GABRA1

P. Striano, H. Lerche, F. Rosenow, 2016, Neurology.

The phenotypic spectrum of SCN8A encephalopathy

G. Carvill, I. Scheffer, H. Mefford, 2015, Neurology.

Early and effective treatment of KCNQ2 encephalopathy

I. Scheffer, R. Guerrini, M. Cilio, 2015, Epilepsia.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Holger Lerche, Renzo Guerrini, Christel Depienne, 2013, American journal of human genetics.

Cortical dysplasias of genetic origin

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

S. Savasta, R. Guerrini, D. Mei, 2011, Developmental medicine and child neurology.

Genetics of epilepsy: epilepsy research foundation workshop report.

J. H. Cross, Michael R. Johnson, I. Scheffer, 2007, Epileptic disorders : international epilepsy journal with videotape.

Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families

I. Scheffer, S. Berkovic, A. Korczyn, 2004, Epilepsia.

Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy

I. Scheffer, S. Berkovic, R. Kaplan, 2004, Annals of neurology.

Distinguishing sleep disorders from seizures: diagnosing bumps in the night.

I. Scheffer, S. Berkovic, M. Davey, 2006, Archives of neurology.

Intracortical hyperexcitability in humans with a GABAA receptor mutation.

S. Berkovic, D. Reutens, C. Marini, 2008, Cerebral cortex.

A GABAA receptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding

David C. Reutens, Henri Jacques Tochon-Danguy, Samuel F. Berkovic, 2006, NeuroImage.

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

R. Guerrini, D. Mei, C. Marini, 2010, Epilepsia.

Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations

P. Striano, F. Zara, R. Biancheri, 2007, Epilepsia.

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

R. Guerrini, D. Mei, J. Helen Cross, 2006, Epilepsia.

Autonomic and hormonal ictal changes in gelastic seizures from hypothalamic hamartomas.

P. Cortelli, M. Contin, F. Provini, 1998, Electroencephalography and clinical neurophysiology.

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

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

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

I. Scheffer, H. Mefford, A. Munnich, 2019, Human mutation.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX

W. Dobyns, R. Guerrini, V. Conti, 2011, American journal of medical genetics. Part A.

99 Molecular Genetic Tests for Epilepsies

D. Mei, C. Marini, 2010 .

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

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

Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy.

C. Barba, E. Lucenteforte, M. Lenge, 2020, Cerebral cortex.

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.

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

S. Topp, M. Simpson, P. Fallon, 2020, Epilepsia.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Michael R. Johnson, A. Uitterlinden, P. May, 2018, The Lancet Neurology.

Definition and diagnostic criteria of sleep-related hypermotor epilepsy.

I. Scheffer, L. Parrino, M. Mahowald, 2016, Neurology.

Pitfalls in genetic testing: the story of missed SCN1A mutations

G. Carvill, I. Scheffer, H. Mefford, 2016, Molecular genetics & genomic medicine.

Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Michael R. Johnson, I. Scheffer, H. Mefford, 2017 .

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

I. Scheffer, S. Berkovic, S. Petrou, 2001, Nature genetics.

Epileptic drop attacks in partial epilepsy: clinical features, evolution, and prognosis

A. Baruzzi, R. Riva, P. Avoni, 1998, Journal of neurology, neurosurgery, and psychiatry.

Abnormal Phonologic Processing in Familial Lateral Temporal Lobe Epilepsy Due to a New LGI1 Mutation

C. Cianchetti, R. Guerrini, D. Mei, 2005, Epilepsia.

Genetic heterogeneity in infantile spasms

H. Mefford, P. Striano, J. Serratosa, 2019, Epilepsy Research.

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

I. Scheffer, H. Mefford, R. Burgess, 2019, Annals of neurology.

Clinical spectrum of SCN1A mutations

A. Gambardella, C. Marini, 2009, Epilepsia.

Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities

S. Seri, R. Michelucci, B. Neville, 2007, Epilepsia.

Idiopathic epilepsies with seizures precipitated by fever: clinical and genetic study of 132 patients

S. Seri, B. Neville, H. Cross, 2005 .

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.

I. Scheffer, F. Dubeau, F. Andermann, 2010, Brain : a journal of neurology.

No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy

P. Striano, R. Michelucci, F. Zara, 2015, Epilepsia.

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.

Novel treatments in epilepsy guided by genetic diagnosis

C. Marini, M. Giardino, 2021, British journal of clinical pharmacology.

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

R. Guerrini, D. Mei, F. Bisulli, 2013, Epileptic disorders : international epilepsy journal with videotape.

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

I. Scheffer, S. Berkovic, M. Kinali, 2012, Neurology.

Ictal bradycardia in partial epileptic seizures: Autonomic investigation in three cases and literature review.

P. Cortelli, F. Bisulli, P. Tinuper, 2001, Brain : a journal of neurology.

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

P. May, R. Balling, I. Helbig, 2017, American journal of medical genetics. Part A.

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Colin A. Ellis, I. Scheffer, P. Striano, 2022, Neurology.

Mutational Analysis of EFHC1 Gene in Italian Families with Juvenile Myoclonic Epilepsy

P. Striano, R. Michelucci, B. Castellotti, 2007, Epilepsia.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations

Ethan M. Goldberg, Zara, Silvana, 2021 .

Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

F. Benfenati, P. Striano, A. Coppola, 2020, Neurology Genetics.

Do mutations in SCN1B cause Dravet syndrome?

I. Scheffer, S. Berkovic, R. Guerrini, 2013, Epilepsy Research.

Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies

V. Cetica, R. Guerrini, D. Mei, 2019, Epilepsia.

SCN1A testing for epilepsy: Application in clinical practice

I. Scheffer, S. Sisodiya, S. Berkovic, 2013, Epilepsia.

Neurodevelopment and PCDH19-related developmental and epileptic encephalopathy (PCDH19-DDE)

M. Passafaro, C. Marini, S. Bassani, 2021 .

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

E. Bertini, P. Striano, R. Guerrini, 2018, Epilepsia.

Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients

R. Guerrini, B. Bernardina, P. Veggiotti, 2011, Epilepsia.

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

R. Guerrini, D. Mei, L. Parmeggiani, 2012, Epilepsia.

Erratum: Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy (Epilepsia (2013) 54 (256-264) DOI:10.1111/epi.12517)

H. Mefford, C. Elger, A. Scabar, 2013 .

Human nocturnal frontal lobe epilepsy : pharmocogenomic profiles of pathogenic nAChR β-subunit mutations outside the ion channel pore

Antonarakis, I. Scheffer, D. Bertrand, 2008 .

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

J. Rosenfeld, W. Chung, L. Shaffer, 2011, European Journal of Human Genetics.

Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures

David A. Williams, Samuel F. Berkovic, Steven Petrou, 2001, Nature Genetics.

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy

P. Striano, H. Lerche, J. Serratosa, 2012, Neurology.

SLC32A1

R. Guerrini, C. Marini, 2021, Neurology.

Extending the KCNQ2 encephalopathy spectrum

I. Scheffer, P. Striano, R. Møller, 2013, Neurology.

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

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

Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation

L. Mirabile, R. Guerrini, C. Marini, 2015, Epilepsy & Behavior.

An Italian consensus on the management of Lennox-Gastaut syndrome

P. Striano, A. Coppola, M. Puligheddu, 2022, Seizure.

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

P. Striano, U. Stephani, M. Simpson, 2015, Epilepsia.

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

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

Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

Kate M. Lawrence, I. Scheffer, S. Berkovic, 2011, Archives of neurology.

P. Striano, G. Plazzi, A. Vignoli, 2019, Seizure.

A pharmacovigilance study on antiepileptic medications in a paediatric hospital in Italy

C. Polidori, C. Marini, A. Pompilio, 2022, European journal of hospital pharmacy : science and practice.

CHLAMYDIA INFECTION

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

Atypical face shape and genomic structural variants in epilepsy

Peter Hammond, Josemir W. Sander, Renzo Guerrini, 2012, Brain : a journal of neurology.

Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy

Tim T. Chen, A. Goldman, T. Klassen, 2013, Neurology.

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function

A. Becchetti, R. Guerrini, V. Conti, 2015, Neurology.

No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures

G. Comi, F. Zara, P. Aridon, 2005, Neuroscience Letters.

Do the functional properties of HCN1 mutants correlate with the clinical features in epileptic patients?

B. Castellotti, L. Antolini, I. Rivolta, 2021, Progress in biophysics and molecular biology.

Diagnostic implications of genetic copy number variation in epilepsy plus

H. Mefford, L. Lagae, W. van Paesschen, 2019, Epilepsia.

Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap?

Michael R. Johnson, I. Scheffer, S. Berkovic, 2004, Brain : a journal of neurology.

Clinical spectrum of STX1B-related epileptic disorders

A. Pagnamenta, P. May, W. van Paesschen, 2019, Neurology.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

C. Gieger, I. Scheffer, T. Wienker, 2012, Human molecular genetics.

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss of an Exonic Splicing Enhancer

R. Guerrini, C. Marini, A. Morrone, 2018, Journal of Neurology.

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.

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

Manuela Pendziwiat, R. Møller, I. Helbig, 2016, Molecular genetics & genomic medicine.

EEG in Adult‐onset Idiopathic Generalized Epilepsy

Carla Marini, M. Newton, S. Berkovic, 2003, Epilepsia.

Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics

M. Newton, S. Berkovic, J. Archer, 2003, Journal of neurology, neurosurgery, and psychiatry.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Oriane Trouillard, Christel Depienne, Emmanuel Roze, 2014, Nature Genetics.

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.

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

F. Benfenati, V. Narayanan, L. Maragliano, 2018, Brain : a journal of neurology.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Maja Steinlin, Markus Wolff, Holger Lerche, 2015, Nature Genetics.

The genetics of Dravet syndrome

I. Scheffer, F. Zara, R. Guerrini, 2011, Epilepsia.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

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

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

Rare coding variants in GABAA receptor encoding genes in genetic generalized epilepsies: an exome-based case-control study

Anne, Ruppert, Michael R. Johnson, 2018 .

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

G. Carvill, I. Scheffer, H. Mefford, 2021, Neurology: Genetics.

Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models

R. Guerrini, C. Marini, M. Mantegazza, 2014, Neurotherapeutics.

Na+ channelopathies and epilepsy: recent advances and new perspectives

C. Marini, M. Mantegazza, 2010, Expert review of clinical pharmacology.

Familial clustering of seizure types within the idiopathic generalized epilepsies

I. Scheffer, S. Berkovic, D. Rabinowitz, 2005, Neurology.

The genetic and molecular basis of epilepsy.

R. Guerrini, G. Casari, C. Marini, 2003, Trends in molecular medicine.

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

Carla Marini, I. Scheffer, S. Berkovic, 2003, Brain : a journal of neurology.

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

F. Benfenati, H. Mandel, E. Levanon, 2019, Brain : a journal of neurology.

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.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

I. Scheffer, P. Striano, A. Becker, 2019, Epilepsia.

Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies

P. Striano, A. Coppola, S. Sisodiya, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

H. Mefford, E. Bacchelli, P. Striano, 2019, Annals of clinical and translational neurology.

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

I. Scheffer, P. Striano, S. Berkovic, 2009, Epilepsia.

Nonconvulsive Status Epilepticus Precipitated by Carbamazepine Presenting as Dissociative and Affective Disorders in Adolescents

R. Guerrini, L. Parmeggiani, C. Marini, 2005, Journal of child neurology.

Distinguishing Sleep Disorders From Seizures

I. Scheffer, S. Berkovic, M. Davey, 2006 .

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 .

Climate change and epilepsy: Insights from clinical and basic science studies

I. Scheffer, H. Fowler, R. Krause, 2021, Epilepsy & Behavior.

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

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

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

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.

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

D. Mei, C. Marini, Suvasini Sharma, 2017, Journal of pediatric neurosciences.

The Causes of Epilepsy: West syndrome and Lennox–Gastaut syndrome

R. Guerrini, C. Marini, 2011 .

Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy

I. Scheffer, S. Berkovic, D. Reutens, 2008, Neurology.

Generalized epilepsies.

C. Barba, R. Guerrini, C. Marini, 2019, Handbook of clinical neurology.

Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

I. Scheffer, C. Elger, R. Kaneva, 2012, Epilepsia.

Seizures and epilepsy in the elderly: Management

C. Marini, King Ma, Archer Js, 2004 .

Genetic malformations of cortical development

R. Guerrini, C. Marini, 2006, Experimental Brain Research.

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

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

Genetics of antiepileptic drug resistance

S. Sisodiya, C. Marini, 2009, Current opinion in neurology.

Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life

E. Mercuri, R. Guerrini, D. Mei, 2021, Brain and Development.

Can We Increase the Likelihood of Success for Future Association Studies in Epilepsy?

R. Guerrini, P. Gorroochurn, C. Marini, 2006, Epilepsia.

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

I. Scheffer, E. Haan, J. Gécz, 2015, Human molecular genetics.

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

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

Epilepsy Course and Developmental Trajectories in STXBP1-DEE

P. Striano, A. Coppola, G. Cantalupo, 2022, Neurology: Genetics.

GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders

R. Borgatti, P. Striano, N. Nardocci, 2023, Orphanet Journal of Rare Diseases.

Epilepsy Associated with ASD and Intellectual Disability

C. Marini, 2016 .

Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplication

M. Genuardi, R. Guerrini, S. Giglio, 2013, American journal of medical genetics. Part A.

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

R. Guerrini, V. Conti, D. Mei, 2011, American journal of medical genetics. Part A.

Reading epilepsy in a patient with previous idiopathic focal epilepsy with centrotemporal spikes.

M. Valenti, P. Tinuper, C. Marini, 2000, Epileptic disorders : international epilepsy journal with videotape.

The role of the nicotinic acetylcholine receptors in sleep-related epilepsy.

R. Guerrini, C. Marini, 2007, Biochemical pharmacology.

Protocadherin 19 mutations in girls with infantile-onset epilepsy

R. Guerrini, D. Mei, L. Parmeggiani, 2010, Neurology.

Clinical and video-polygraphic features of epileptic spasms in adults with cortical migration disorder.

A. Baruzzi, P. Tinuper, C. Marini, 1996, Epileptic disorders : international epilepsy journal with videotape.

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

P. May, R. Balling, H. Lerche, 2020, Brain : a journal of neurology.

Human Nocturnal Frontal Lobe Epilepsy: Pharmocogenomic Profiles of Pathogenic Nicotinic Acetylcholine Receptor β-Subunit Mutations outside the Ion Channel Pore

I. Scheffer, D. Bertrand, S. Antonarakis, 2008, Molecular Pharmacology.

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

P. Striano, S. Vernes, F. Zara, 2023, Human Genetics.

Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies

G. Biagini, R. Guerrini, V. Conti, 2022, Journal of personalized medicine.

Clinical and EEG features of partial epilepsy with secondary bilateral synchrony

G. Plazzi, F. Provini, A. Baruzzi, 1995 .

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Kate M. Lawrence, I. Scheffer, C. Reid, 2015, Annals of clinical and translational neurology.

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

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

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [γ2(R43Q)] found in human epilepsy

Steven Petrou, Michael W Parker, Carla Marini, 2002, Proceedings of the National Academy of Sciences of the United States of America.

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

E. Bertini, R. Guerrini, D. Mei, 2011, Epilepsia.

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

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

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations

P. Striano, R. Michelucci, F. Zara, 2021, Journal of the Neurological Sciences.

Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication

S. Sartori, F. Vigevano, F. Operto, 2023, Epilepsia.

Genome-wide Association Analysis of Genetic Generalized Epilepsies Implicates Susceptibility Loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 Epicure Consortium

C. Gieger, I. Scheffer, T. Wienker, 2022 .

Partial epilepsy with prominent auditory symptoms not linked to chromosome 10q.

P. Avoni, F. Bisulli, C. Nobile, 2002, Epileptic disorders : international epilepsy journal with videotape.

SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus.

H. Mefford, G. Cantalupo, T. Pippucci, 2019, Epileptic disorders.

Colpocephaly in two siblings: further evidence of a genetic transmission

V. Carelli, P. Montagna, P. Tinuper, 2000, Developmental medicine and child neurology.

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

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

A de novo mutation in sporadic nocturnal frontal lobe epilepsy

I. Scheffer, S. Berkovic, J. Mulley, 2000, Annals of neurology.

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

I. Scheffer, J. Gécz, C. Depienne, 2020, Translational Psychiatry.

The Use of Stereophotogrammetry to Detect Copy Number Variation in People With Epilepsy

R. Hennekam, P. Hammond, C. Depondt, 2011 .

Long‐term effectiveness of add‐on perampanel in patients with Lennox–Gastaut syndrome: A multicenter retrospective study

P. Striano, F. Villani, A. Vignoli, 2023, Epilepsia.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Human Mutation

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

Partial Epilepsy of Long Duration: Changing Semiology with Age

G. Plazzi, F. Provini, A. Baruzzi, 1996, Epilepsia.

A registry for Dravet syndrome: The Italian experience

E. Lucenteforte, R. Guerrini, T. Granata, 2023, Epilepsia open.

Effectiveness of perampanel as the only add‐on: Retrospective, multicenter, observational real‐life study on epilepsy patients

P. Striano, A. Gambardella, C. Di Bonaventura, 2022, Epilepsia open.

Chronic Idiopathic Intestinal Pseudo-obstruction

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

[Cutaneous amyloidoses].

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