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List of works by Raffaella Cusmai

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

scientific article published on 26 January 2018

Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication

scientific article published on 25 October 2015

Cognitive development in females with PCDH19 gene-related epilepsy

scientific article

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

scientific article published on 13 May 2016

Convulsions associated with gastroenteritis in the spectrum of benign focal epilepsies in infancy: 30 cases including four cases with ictal EEG recording

scientific article published on November 23, 2010

Current role of perampanel in pediatric epilepsy.

scientific article published on 02 June 2017

Current role of rufinamide in the treatment of childhood epilepsy: literature review and treatment guidelines.

scientific article

De novo Absence Status Epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort

scientific article published on 10 November 2019

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

scientific article published on 19 November 2018

Early onset absence epilepsy with onset in the first year of life: a multicenter cohort study.

scientific article

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies-An Italian observational multicenter study.

scientific article published on 18 August 2016

Efficacy and tolerability of add-on lacosamide in children with Lennox-Gastaut syndrome

scientific article published on 30 January 2014

Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome.

scientific article published on 27 August 2013

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

scientific article published on 23 January 2018

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

scientific article

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities

scientific article

Erratum to: Long-term outcome of epilepsy in patients with Prader–Willi syndrome

scientific article published on 01 January 2015

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article published on 12 September 2017

Focal lesions in infantile spasms ⬇️

scientific article published on 01 June 1988

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

scientific article

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage

scientific article

Lacosamide in pediatric and adult patients: comparison of efficacy and safety.

scientific article published on 5 January 2013

Long-term follow-up in children with benign convulsions associated with gastroenteritis

scientific article published on 14 April 2014

Long-term outcome of epilepsy in patients with Prader-Willi syndrome.

scientific article published on 18 October 2014

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

scientific article published on 30 November 2016

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

scientific article published on 7 April 2016

Neuroimaging Changes in Menkes Disease, Part 1.

scientific article

Neuroimaging Changes in Menkes Disease, Part 2.

scientific article

PCDH19-related epilepsy in two mosaic male patients.

scientific article

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.

scientific article published on 4 May 2017

Reflex Myoclonic Epilepsy in Infancy: A New Age‐Dependent Idiopathic Epileptic Syndrome Related to Startle Reaction ⬇️

scientific article published on April 1, 1995

Reflex myoclonic epilepsy in infancy: a multicenter clinical study.

scientific article

Rufinamide efficacy and safety as adjunctive treatment in children with focal drug resistant epilepsy: the first Italian prospective study

scientific article published on 05 June 2012

Rufinamide for the treatment of refractory epilepsy secondary to neuronal migration disorders

scientific article published on 30 January 2014

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

scientific article

Telomere shortening and telomere position effect in mild ring 17 syndrome

scientific article published on 7 January 2014

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article

White matter disruption is associated with persistent seizures in tuberous sclerosis complex.

scientific article

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