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List of works by Nicola Pietrafusa

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

scientific article published on 30 March 2020

Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.

scientific article published on 3 February 2016

Claustrum damage and refractory status epilepticus following febrile illness

scientific article

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

scientific article published on 19 November 2018

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

Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series

scientific article published on 15 August 2014

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

scientific article

Introduction to the Italian section for young neurologists

scientific article published on 14 June 2019

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

Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience

scientific article published on 16 February 2019

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

scientific article published on 16 June 2016

Pediatric status epilepticus: Identification of prognostic factors using the new ILAE classification after 5 years of follow-up

scientific article published on 12 November 2019

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

Purified Cannabidiol for Treatment of Refractory Epilepsies in Pediatric Patients with Developmental and Epileptic Encephalopathy

scientific article published on 01 August 2019

TBC1D24 gene mutations are associated with high risk of sudden unexpected death

scientific article published on 09 June 2017

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

scientific article published on 01 August 2016

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