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List of works by Bernardo Dalla Bernardina

4p- Syndrome: A Chromosomal Disorder Associated with a Particular EEG Pattern

scientific article published on 01 December 1995

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

scientific article published on 17 February 2008

A study of 63 cases with eyelid myoclonia with or without absences: type of seizure or an epileptic syndrome?

scientific article published on 5 May 2009

Absence seizures in the first 3 years of life: an electroclinical study of 46 cases.

scientific article published on 26 January 2011

Acute measles encephalitis of the delayed type in an immunosuppressed child

scientific article published on 01 January 1989

Association between symptoms of attention-deficit/hyperactivity disorder and bulimic behaviors in a clinical sample of severely obese adolescents.

scientific article published on 30 May 2006

Attention-deficit/hyperactivity disorder (ADHD) and binge eating

scientific article

Attention-deficit/hyperactivity disorder (ADHD) and obesity: a systematic review of the literature

scientific article

Attention-deficit/hyperactivity disorder, Tourette's syndrome, and restless legs syndrome: the iron hypothesis

scientific article published on 27 December 2007

Attention-deficit/hyperactivity disorder, binge eating, and obesity

scientific article published on 01 June 2007

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 21 October 2020

Basal ganglia dysmorphism in patients with Aicardi syndrome

scientific article published on 04 December 2020

Benign focal epilepsy and "electrical status epilepticus" during sleep (author's transl)

scientific article published on September 1, 1978

Benign myoclonic epilepsy in infancy (BMEI): a longitudinal electroclinical study of 22 cases

scientific article published in January 2006

Benign myoclonus of early infancy or benign non-epileptic infantile spasms

scientific article published in February 1986

Benign nocturnal alternating hemiplegia of childhood: The first clinical report with paroxysmal events home-video recordings

scientific article published in August 2008

Biotin-responsive infantile encephalopathy: EEG-polygraphic study of a case

scientific article published in September 1989

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

scientific article published on 22 March 2007

Brain iron levels in attention-deficit/hyperactivity disorder: A pilot MRI study

scientific article published on 17 May 2011

Cerebral hemiplegias in children. EEG data and epileptic manifestations related to childhood cerebral hemiplegia in children

scientific article published on January 1972

Childhood cerebrovascular diseases not associated with vascular malformations

scientific article published in January 1985

Clinical dissection of early onset absence epilepsy in children and prognostic implications

scientific article published on 27 August 2013

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

scientific article published in January 2011

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

scientific article published on 27 August 2009

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

scientific article published on 31 October 2006

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

scientific article published on 19 November 2018

Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).

scientific article published in September 2011

Diagnostic imaging in 13 cases of Rasmussen's encephalitis: can early MRI suggest the diagnosis?

scientific article published on 12 February 2003

Diaper changing-induced reflex seizures in CDKL5-related epilepsy

scientific article published on 01 October 2018

Does excessive daytime sleepiness contribute to explaining the association between obesity and ADHD symptoms?

scientific article published on 22 June 2007

Dravet syndrome and other sodium channel-related encephalopathies

scientific article published on 01 December 2019

Dravet syndrome: Early electroclinical findings and long-term outcome in adolescents and adults

scientific article published on 01 December 2019

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

scientific article published on 12 March 2008

EEG features in Encephalopathy related to Status Epilepticus during slow Sleep

scientific article published on 01 June 2019

EEG findings during "paroxysmal hemiplegia" in a patient with GLUT1-deficiency.

scientific article published on 17 January 2017

EEG of a nocturnal seizure in a patient with "benign epilepsy of childhood with Rolandic spikes"

scientific article published on 01 September 1975

Early myoclonic epileptic encephalopathy (E.M.E.E.).

scientific article published on 01 June 1983

Early-onset absence epilepsy and paroxysmal dyskinesia

scientific article published in October 2002

Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution.

scientific article published on 30 September 2012

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

scientific article published on 10 April 2009

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

Efficacy and tolerability of vigabatrin in children with refractory partial seizures: a single-blind dose-increasing study

scientific article published on 01 July 1995

Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15).

scientific article published on 23 January 2018

Electroclinical findings in four patients with karyotype 47,XYY.

scientific article published on 16 September 2010

Electroencephalographic characteristics of Dravet syndrome

scientific article published on April 1, 2011

Encephalopathy related to Status Epilepticus during slow Sleep: from concepts to terminology

scientific article published on 01 June 2019

Epilepsy and EEG findings in males with fragile X syndrome.

scientific article published in August 1999

Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient

scientific article published on 15 October 2020

Epilepsy in Menkes disease: an electroclinical long-term study of 28 patients.

scientific article

Epilepsy in ring chromosome 20 syndrome

scientific article

Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study

scientific article published on 31 January 2014

Epileptic spasms in clusters without hypsarrhythmia in infancy

scientific article published in June 2003

Erratum: Association between symptoms of attention-deficit/hyperactivity disorder and bulimic behaviors in a clinical sample of severely obese adolescents

scholarly article published in International Journal of Obesity

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Experience with immunomodulatory treatments in Rasmussen's encephalitis

scientific article published on 01 December 2003

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Familial Ohtahara syndrome due to a novel ARX gene mutation

scientific article published on 01 December 2010

Felbamate in therapy-resistant epilepsy: an Italian experience

scientific article published in November 1996

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

scientific article

Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study

scientific article published on 21 September 2019

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

scientific article published on 29 January 2013

Increased left parietal volumes relate to delayed language development in autism: a structural mri study

scientific article published on October 1, 2010

Individually tailored extratemporal epilepsy surgery in children: anatomo-electro-clinical features and outcome predictors in a population of 53 cases

scientific article published on 17 August 2012

Infantile spams without hypsarrhythmia: A study of 16 cases

scientific article published on December 16, 2010

Infantile spasms: Toward a selective diagnostic and therapeutic approach

scientific article published on October 1, 2010

Irreversible respiratory failure in an achondroplastic child: the importance of an early cervicomedullary decompression, and a review of the literature

scientific article

Kojewnikow's Epilepsia Partialis Continua: two cases associated with striatal necrosis

scientific article published on 01 December 1988

Lack of SCN1A mutations in familial febrile seizures

scientific article published on 01 May 2002

Lafora disease (author's transl)

scientific article published on January 1978

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families

scientific article published in June 2006

Low frequency mu-like activity characterizes cortical rhythms in epilepsy due to ring chromosome 20.

scientific article published on 19 August 2013

Mapping the Effect of Interictal Epileptic Activity Density During Wakefulness on Brain Functioning in Focal Childhood Epilepsies With Centrotemporal Spikes

scientific article published on 19 December 2019

Microgyria associated with Sturge-Weber angiomatosis

scientific article published in August 1994

Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients.

scientific article published on 29 January 2008

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

scientific article published on 2 February 2013

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

scientific article

Myoclonic status in nonprogressive encephalopathies.

scientific article published in January 2005

No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy

scientific article published in March 2003

No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1.

scientific article published on 01 December 1999

Non-ketotic hyperglycinaemic encephalopathy (author's transl)

scientific article published on 01 January 1978

Nosological classification of epilepsies in the first three years of life

scientific article published in January 1983

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

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

scientific article published on 29 September 2014

Oxidative stress-related biomarkers in autism: systematic review and meta-analyses

scientific article published on 18 April 2012

PRRT2 mutations are the major cause of benign familial infantile seizures.

scientific article published on 11 June 2012

Paediatric anti-N-methyl-D-aspartate receptor encephalitis: The first Italian multicenter case series

scientific article published on 3 March 2015

Parent reports of sleep/alertness problems and ADHD symptoms in a sample of obese adolescents.

scientific article published in December 2007

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life

scientific article published on 11 April 2011

Pediatric epilepsy following neonatal seizures symptomatic of stroke.

scientific article published on 6 June 2015

Periventricular heterotopia in fragile X syndrome

scientific article published in August 2006

Polygraphic study of dyssynergia cerebellaris myoclonica (Ramsay-Hunt syndrome) and of the intention myoclonus (Lance-Adams syndrome) during sleep

scientific article published in January 1973

Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review

scientific article published on 5 September 2016

Progressive myoclonic encephalopathy in X-linked hypogamma-globulinemia. Case report, review of the literature and its relationship with progressive encephalopathy in children with A.I.D.S.

scientific article

Rasmussen's syndrome: longitudinal EEG study from the first seizure to epilepsia partialis continua

scientific article

Recommendations of the Italian League against Epilepsy working group on generic products of antiepileptic drugs

scientific article published on January 2006

Refining the phenotype associated with MEF2C haploinsufficiency.

scientific article published in November 2010

Restless legs syndrome and attention-deficit/hyperactivity disorder: a review of the literature

scientific article

Restless legs syndrome triggered by heart surgery.

scientific article published in September 2006

Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children

scientific article published on 2 July 2009

Rolandic spikes in children with and without epilepsy. (20 subjects polygraphically studied during sleep)

scientific article published on June 1, 1976

Scotosensitive and photosensitive myoclonic seizures in an infant with trisomy 13.

scientific article published on 28 July 2007

Severe infant myoclonic epilepsy (author's transl)

scientific article

Severe myoclonic epilepsy in infancy (Dravet syndrome) 30 years later

scientific article published on April 2011

Sleep and benign partial epilepsies of childhood: EEG and evoked potentials study

scientific article published on January 1, 1991

Sleep disturbances and serum ferritin levels in children with attention-deficit/hyperactivity disorder.

scientific article

Sleep polygraphic findings in epileptic encephalopathies from infancy to adolescence

scientific article published on January 1, 1991

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.

scientific article published on 6 September 2012

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

scientific article (publication date: 24 June 2003)

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

scientific article

Status epilepticus in benign rolandic epilepsy manifesting as anterior operculum syndrome.

scientific article

Symmetrical bithalamic hyperdensities in asphyxiated full-term newborns: an early indicator of status marmoratus

scientific article published on January 1988

Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study

scientific article published on 20 October 2016

Syndrome with periodic central apnea during wakefulness and transient disturbances of consciousness ("syncopes" of respiratory arrest)

scientific article published on January 1, 1976

Temporal lobe epilepsy in children: electroclinical study of 77 cases.

scientific article

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scientific article

The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations

article

The electrical status epilepticus syndrome

scientific article published on January 1, 1992

The ketogenic diet for Dravet syndrome and other epileptic encephalopathies: an Italian consensus.

scientific article published on April 2011

The ketogenic diet in patients with myoclonic status in non-progressive encephalopathy

scientific article published on 11 July 2017

The relationship between body mass index and body size dissatisfaction in young adolescents: spline function analysis

scientific article

The relationship between body size and depression symptoms in adolescents

scientific article published on 10 September 2008

The visual system in eyelid myoclonia with absences

scientific article published on 11 August 2014

Transient focal leukoencephalopathy following intraventricular methotrexate and cytarabine. A complication of the Ommaya reservoir: case report and review of the literature

scientific article

Tuberous sclerosis and Down syndrome: a casual association?

scientific article published in July 1992

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

scientific article published on 07 January 2009

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations

scientific article

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

scientific article

[Affective symptoms during attacks of epilepsy in children (author's transl)]

scientific article published on 01 January 1980

[Depressive symptoms and low self-esteem in obese children and adolescents]

scientific article published on 01 April 2005

[Early myoclonic epileptic encephalopathy (EMEE) (author's transl)]

scientific article published on 01 April 1982

[Inhibition of parcel myoclonus causing movements of chorea type during discharges of the "petit mal" type]

scientific article published on 01 April 1971

[Paroxysmal dyskinesia during treatment with diphenylhydantoin]

scientific article published on 01 January 1980