| 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 |
| 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 |
| 2021 |
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes |
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 |
Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant |
Articolo in rivista |
Vai |
| 2020 |
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome. |
Articolo in rivista |
Vai |
| 2020 |
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review |
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 |
West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence? |
Articolo in rivista |
Vai |
| 2013 |
Efficacy And Tolerability of Acetazolamide in Migraine Prophylaxis and Klinefelter Syndrome: A Case Report |
eedings |
Vai |
| 2012 |
West syndrome followed by juvenile
myoclonic epilepsy: a coincidental
occurrence? |
eedings |
Vai |
| 2012 |
A new case of Worster-Drought syndrome |
eedings |
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 |
eedings |
Vai |
| 2009 |
Benign Nocturnal Alternating Hemiplegia Of Childhood: A New Case. |
eedings |
Vai |
| 2008 |
ATROFIA DENTATO-RUBRO-PALLIDO-LUYSIANA AD ESORDIO PRECOCE: ASPETTI NEUROPSICOLOGICI. |
eedings |
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. |
eedings |
Vai |
| 2005 |
Early behavioural phenotype in a child with inv dup (15) |
eedings |
Vai |
| 2005 |
Benign myoclonic epilepsy in infancy: neuropsychological and behavioural outcome |
Articolo in rivista |
Vai |
| 2004 |
Interfaccia tra disturbi del comportamento e disturbi dell’apprendimento. |
Articolo in rivista |
Vai |
| 2004 |
Epilessia e disurbi psichiatrici in un soggetto con ipoplasia cerebellare |
Articolo in rivista |
Vai |
| 2004 |
Il corpo nelle malattie muscolari |
Capitolo o Saggio |
Vai |
| 2003 |
Non-convulsive status epilepticus associated with tiagabine in a pediatric patient |
Articolo in rivista |
Vai |
