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List of works by Marina Trivisano

A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland.

scientific article published on September 2010

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

scientific article published on 04 May 2020

Acute intralesional recording in hypothalamic hamartoma: description of 4 cases.

scientific article published on 10 October 2014

Bilateral putaminal necrosis and bronopol toxicity

scientific article

Brain SPECT Imaging of Ictal Smile Seizure ⬇️

scientific article published on May 1, 2013

CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures

scientific article published on 07 August 2015

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

scientific article published on 30 March 2020

Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis.

scientific article

Childhood refractory focal epilepsy following acute febrile encephalopathy.

scientific article published on 18 November 2010

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

scientific article published on 15 February 2017

Cognitive development in females with PCDH19 gene-related epilepsy

scientific article

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

scientific article published on 19 November 2018

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

scientific article published on 09 July 2020

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

Diagnosing photosensitive epilepsy: fancy new versus old fashioned techniques in patients with different epileptic syndromes.

scientific article published on 7 July 2010

Documentation of autonomic seizures and autonomic status epilepticus with ictal EEG in Panayiotopoulos syndrome.

scientific article published on 24 August 2010

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

Electroencephalographic features in dravet syndrome: five-year follow-up study in 22 patients

scientific article published on 21 October 2011

Epilepsy in ring 14 chromosome syndrome.

scientific article

Epileptic encephalopathy

scientific article published on 31 December 2012

Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy.

scientific article

Extending the use of stiripentol to other epileptic syndromes: a case of PCDH19-related epilepsy

scientific article published on 29 November 2014

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

Ictal video-polygraphic features of perioral myoclonia with absences

scientific article published on 14 May 2011

Ictal vomiting as a sign of temporal lobe epilepsy confirmed by stereo-EEG and surgical outcome

scientific article

Idiopathic West Syndrome followed by childhood absence epilepsy.

scientific article published on 21 August 2010

Lacosamide in absence status epilepticus

scientific article published on 14 December 2013

Lentiform fork sign: a magnetic resonance finding in a case of acute metabolic acidosis

scientific article

Mutation ofCHRNA2in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy

scientific article published on 03 April 2015

Myoclonic astatic epilepsy: An age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution

scientific article published on 27 August 2011

Neonatal hemifacial spasm and fourth ventricle mass

scientific article

Occipital seizures induced by Intermittent Photic Stimulation in Dravet syndrome

scientific article published on 05 January 2014

PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity.

scientific article published on 16 June 2016

PCDH19-related epilepsy in two mosaic male patients.

scientific article

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

scientific article published on 23 October 2020

PRRT2 is mutated in familial and non-familial benign infantile seizures

scientific article

Panayiotopoulos syndrome: a clinical, EEG, and neuropsychological study of 93 consecutive patients.

scientific article

Partial Trisomy 18q and Epileptic Spasms Induced by Eating Associated With Bilateral Opercular Dysplasia

scientific article published on 25 March 2013

Peri-ictal water drinking: a rare automatic behaviour in temporal lobe epilepsy.

scientific article

Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease

scientific article

Prolonged episode of dystonia and dyskinesia resembling status epilepticus following acute intrathecal baclofen withdrawal.

scientific article

Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature

scientific article published on 15 March 2011

Rolandic epilepsy: an uncommon presentation with leg motor seizures.

scientific article published on 30 September 2010

Selective and superselective angiography of pediatric moyamoya disease angioarchitecture in the posterior circulation

scientific article

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

scientific article

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

scientific article published on 01 December 2019

The phenotype of SCN8A developmental and epileptic encephalopathy

scientific article published on 31 August 2018

Vigabatrin efficacy in GPR56-associated polymicrogyria: The role of GABAA receptor pathway

scientific article published on 01 August 2016

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