Antonina Fontana

Palermo, Italy

Last Updated: 09/26/2026

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Found 16 publications

A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster.

A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster.

Journal: Seizure

Published: December 25, 2021

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.

Journal: Molecular genetics & genomic medicine

Published: December 22, 2021

De novo GRIN2A variants associated with epilepsy and autism and literature review.

De novo GRIN2A variants associated with epilepsy and autism and literature review.

Journal: Epilepsy & behavior : E&B

Published: November 22, 2021

Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities.

Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities.

Journal: European journal of medical genetics

Published: October 21, 2021

Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?

Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: December 18, 2020

Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.

Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.

Journal: European journal of medical genetics

Published: October 28, 2020

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.

Journal: Seizure

Published: August 28, 2020

Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.

Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: February 08, 2020

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes.

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes.

Journal: BMC medical genomics

Published: December 02, 2019

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.

Journal: BMC neurology

Published: August 28, 2019

A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome.

A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: February 21, 2019

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.

Journal: Brain & development

Published: February 16, 2017

Showing 1-12 of 16

Last Updated: 09/26/2026