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List of works by Tiziana Pisano

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Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

scientific article
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

scientific article
Early and effective treatment of KCNQ2 encephalopathy.

scientific article
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

scientific article published on 19 November 2016
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.

scientific article published on 11 February 2011
Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation

scientific article
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

scientific article
The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy

scientific article published on 6 September 2015
Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI): a feasibility study.

scientific article published on 8 March 2017
Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.

scientific article published on 26 April 2013
Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy.

scientific article published on 9 July 2013
Prevalence of primary blepharospasm in Sardinia, Italy: A service-based survey

article
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly.

scientific article published on 12 May 2008
Pergolide improvement in neuroleptic-resistant Tourette cases: various mechanisms causing tics.

scientific article published in June 2005
Idiopathic focal epilepsies: the "lost tribe".

scientific article
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

scientific article published on 15 April 2017
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

scientific article published on 01 November 2018
Hypothermia for neonatal hypoxic-ischemic encephalopathy: may an early amplitude-integrated EEG improve the selection of candidates for cooling?

scientific article published on 4 May 2012
Vertical extraventricular functional hemispherotomy: a new variant for hemispheric disconnection. Technical notes and results in three patients

scientific article
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

scientific article published in April 2017
Compression of superficial temporal arteries by a handmade device: a simple way to block or attenuate migraine attacks in children and adolescents

scientific article published on 12 June 2009
Ring chromosome 14 mosaicism: an unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH.

scientific article published in January 2010
Incidence of epilepsy in extremely low-birthweight infants (<1,000 g): a population study of central and southern Sardinia.

scientific article published on January 2009
Long-term efficacy of add-on stiripentol treatment in children, adolescents, and young adults with refractory epilepsies: A single center prospective observational study

scientific article published on 20 October 2019
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

scientific article published on 02 January 2020
Progressive hemispheric shrinking in hemimegalencephaly: a possible role for seizure-related neuronal loss.

scientific article
Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members

scientific article published on 01 December 2008
Response to the letter to the Editor regarding "Leigh-like neuroimaging features associated with new bi-allelic mutations in OPA1".

scientific article
Peer victimization and developmental psychopathology in childhood and adolescence italian psychiatric emergency unit. A single center retrospective observational study

scientific article published on 20 August 2020
Progressive spastic paraplegia as a feature of tetrasomy 18p

scientific article published on 01 September 2010

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