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ANTONINA FONTANA

Pubblicazioni

Data Titolo Tipologia Scheda
2022 Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities Articolo in rivista Vai
2022 Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review Articolo in rivista Vai
2022 De novo GRIN2A variants associated with epilepsy and autism and literature review Articolo in rivista Vai
2022 A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster Articolo in rivista Vai
2021 A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes Articolo in rivista Vai
2021 Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome. Articolo in rivista Vai
2021 Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review Articolo in rivista Vai
2020 Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant Articolo in rivista Vai
2020 Age-dependent Epileptic Encephalopathy Associated With an Unusual Co-Occurrence of ZEB2 and SCN1A Variants Articolo in rivista Vai
2020 Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event? Articolo in rivista Vai
2019 A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome Articolo in rivista Vai
2018 A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability. Articolo in rivista Vai
2015 A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability Articolo in rivista Vai
2014 Benign nocturnal alternating hemiplegia of childhood: a new case with unusual findings Articolo in rivista Vai
2014 Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case Articolo in rivista Vai
2013 Efficacy And Tolerability of Acetazolamide in Migraine Prophylaxis and Klinefelter Syndrome: A Case Report Proceedings Vai
2013 West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence? Articolo in rivista Vai
2012 West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence? Proceedings Vai
2012 A new case of Worster-Drought syndrome Proceedings Vai
2011 Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy Articolo in rivista Vai
2009 Benign nocturnal alternating hemiplegia of chilhood: A new case Proceedings Vai
2009 Benign Nocturnal Alternating Hemiplegia Of Childhood: A New Case. Proceedings Vai
2008 ATROFIA DENTATO-RUBRO-PALLIDO-LUYSIANA AD ESORDIO PRECOCE: ASPETTI NEUROPSICOLOGICI. Proceedings Vai
2008 The hairy elbows syndrome: clinical and neuroradiological findings. Articolo in rivista Vai
2006 Ritardo di linguaggio secondario a regressione precoce di origine epilettica. Proceedings Vai
2005 Benign myoclonic epilepsy in infancy: neuropsychological and behavioural outcome Articolo in rivista Vai
2005 Early behavioural phenotype in a child with inv dup (15) Proceedings Vai
2004 Il corpo nelle malattie muscolari Capitolo o Saggio Vai
2004 Epilessia e disurbi psichiatrici in un soggetto con ipoplasia cerebellare Articolo in rivista Vai
2004 Interfaccia tra disturbi del comportamento e disturbi dell’apprendimento. Articolo in rivista Vai
2003 Non-convulsive status epilepticus associated with tiagabine in a pediatric patient Articolo in rivista Vai