G. Terrone

发表

Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia

E. Bertini, C. Pignata, A. Capuano, 2019, Clinical genetics.

Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy.

M. Walker, E. Aronica, A. Vezzani, 2019, Brain : a journal of neurology.

Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy

Massimo Rizzi, Eleonora Aronica, Erwin A van Vliet, 2019, Brain : a journal of neurology.

A case of Lennox‐Gastaut syndrome in a patient with FOXG1‐related disorder

C. Delanoé, S. Auvin, D. Germanaud, 2014, Epilepsia.

Inhibition of monoacylglycerol lipase terminates diazepam‐resistant status epilepticus in mice and its effects are potentiated by a ketogenic diet

A. Vezzani, L. Porcu, G. Terrone, 2018, Epilepsia.

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.

Diagnosis delay in West syndrome: misdiagnosis and consequences

E. Kossoff, C. Delanoé, S. Auvin, 2012, European Journal of Pediatrics.

A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.

N. Brunetti‐Pierri, L. Ugga, G. Piluso, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

High Mobility Group Box 1 is a novel pathogenic factor and a mechanistic biomarker for epilepsy

A. Vezzani, D. Antoine, T. Ravizza, 2017, Brain, Behavior, and Immunity.

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

V. Capra, M. Severino, A. D’Amico, 2019, European Journal of Human Genetics.

Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus

P. Striano, A. Orsini, A. Verrotti, 2022, Italian Journal of Pediatrics.

Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant.

N. Brunetti‐Pierri, V. Carelli, F. Bisulli, 2022, European journal of medical genetics.

Cholesterol 24-hydroxylase is a novel pharmacological target for anti-ictogenic and disease modification effects in epilepsy

B. Abrahams, E. Aronica, M. During, 2022, Neurobiology of Disease.

Short wheat challenge is a reproducible in‐vivo assay to detect immune response to gluten

L. Greco, A. Camarca, C. Gianfrani, 2012, Clinical and experimental immunology.

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome

N. Brunetti‐Pierri, R. Genesio, L. Nitsch, 2014, American journal of medical genetics. Part A.

Early onset Charcot‐Marie‐Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2‐related neuropathy

A. Geroldi, E. Del Giudice, F. Manganelli, 2015, Journal of the peripheral nervous system : JPNS.

Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene

P. Striano, A. Coppola, N. Brunetti‐Pierri, 2020, Neurological Sciences.

Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report

I. Scala, P. Strisciuglio, M. P. Riccio, 2021, Italian Journal of Pediatrics.

Nutritional assessment and intervention in children with cerebral palsy: a practical approach

M. Molteni, A. Staiano, E. Scarpato, 2017, International journal of food sciences and nutrition.

Epilepsy in Rett syndrome: can seizures play an encephalopathic effect in this disorder?

A. Coppola, C. Santoro, M. P. Riccio, 2019, Minerva pediatrica.

Inflammation and reactive oxygen species as disease modifiers in epilepsy

A. Vezzani, T. Ravizza, S. Balosso, 2020, Neuropharmacology.

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

M. Carella, A. D’Amico, D. Melis, 2012, European journal of medical genetics.

Neuroinflammatory targets and treatments for epilepsy validated in experimental models

W. Löscher, D. Kaufer, E. Aronica, 2017, Epilepsia.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Abou, N. Brunetti‐Pierri, J. Hentschel, 2022, medRxiv.

De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia

N. Guex, A. Reymond, N. Brunetti‐Pierri, 2016, European Journal of Human Genetics.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

P. Striano, S. Bianca, J. Goraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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.

Use of nutritional supplements based on melatonin, tryptophan and vitamin B6 in children with primary chronic headache, with or without sleep disorders: a pilot study.

P. Curatolo, C. Bravaccio, L. Emberti Gialloreti, 2020, Minerva pediatrica.

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

N. Brunetti‐Pierri, G. Merla, M. Pinelli, 2020, Clinical genetics.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018, Neuron.

Mutations in MAST 1 Caus e Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations Graphical

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018 .

Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy.

P. Striano, A. Coppola, C. Santoro, 2019, Epileptic disorders : international epilepsy journal with videotape.

Safety for patients with celiac disease of baked goods made of wheat flour hydrolyzed during food processing.

L. Greco, F. Paparo, R. Troncone, 2011, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

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

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

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

E. Bertini, R. Borgatti, G. Vasco, 2020, Journal of Medical Genetics.

The Pediatric Symptom Checklist as screening tool for neurological and psychosocial problems in a paediatric cohort of patients with coeliac disease

L. Greco, E. Del Giudice, R. Auricchio, 2013, Acta paediatrica.

Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy.

N. Brunetti‐Pierri, G. Andria, E. Del Giudice, 2013, JIMD reports.

Inflammation and Epilepsy: Preclinical Findings and Potential Clinical Translation.

A. Vezzani, G. Terrone, A. Salamone, 2017, Current pharmaceutical design.

A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome

P. Striano, F. Zara, M. Severino, 2020, Seizure.

Preventing epileptogenesis: A realistic goal?

A. Vezzani, G. Terrone, Alberto Pauletti, 2016, Pharmacological research.

Inflammation and reactive oxygen species in status epilepticus: Biomarkers and implications for therapy

A. Vezzani, T. Ravizza, S. Balosso, 2019, Epilepsy & Behavior.

Child Neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder

N. Brunetti‐Pierri, F. Salvatore, G. Andria, 2014, Neurology.

Changes of dimension of EEG/ECoG nonlinear dynamics predict epileptogenesis and therapy outcomes

W. Löscher, A. Vezzani, C. Brandt, 2019, Neurobiology of Disease.

Abstracts of the 6th Meeting of the Neapolitan Brain Group

Martine, Arianna, G. Fiorito, 2018, BMC Neuroscience.

Good cognitive performances in a child with Prader-Willi syndrome

A. Franzese, D. Melis, M. P. Riccio, 2013, Italian Journal of Pediatrics.

COVID-19-associated severe mono-hemispheric encephalitis in a young infant

A. D’Amico, A. Lo Vecchio, A. Guarino, 2022, Neurological Sciences.

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

V. Capra, M. Severino, A. D’Amico, 2019, European Journal of Human Genetics.

Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.

P. Striano, M. Elia, F. Operto, 2022, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy

M. Pricolo, G. Parenti, M. Ruoppolo, 2023, Genes.

Human Mutation

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

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

N. Brunetti‐Pierri, J. Hentschel, F. Alkuraya, 2022, American journal of human genetics.

High Mobility Group Box 1 is a novel pathogenic factor and a mechanistic biomarker for epilepsy

A. Vezzani, D. Antoine, T. Ravizza, 2017, Brain, Behavior, and Immunity.

Effects of antiepileptic therapy on bone mineral status evaluated by phalangeal quantitative ultrasound in pediatric patients with epilepsy and motor impairment.

E. Del Giudice, A. Esposito, A. del Puente, 2019, Minerva Pediatrica.

Mutations in MAST1 cause mega-corpus-callosum with

Martin W. Breuss, A. Pagnamenta, D. Keays, 2019 .