Z

E

ZAMBRELLI , Elena

Last name: ZAMBRELLI

First name: Elena

2021 (v1)

Publication

Metadata-only

De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females

Scala, Marcello Zonneveld-Huijssoon, Evelien Brienza, Marianna

Individuals harboring pathogenic variants in ARHGEF9, encoding an essential submembrane protein for gamma-aminobutyric acid (GABA)-ergic synapses named collybistin, show intellectual disability (ID), facial dysmorphism, behavioral disorders, and epilepsy. Only few affected females carrying large chromosomal rearrangements involving ARHGEF9 have...

Uploaded on: April 14, 2023
2023 (v1)

Publication

Metadata-only

Psychobiological personality traits of children and adolescents with disorders of arousal

Turner, Katherine Castelnovo, Anna Perogamvros, Lampros

Introduction: Disorders of arousal (DOA) are parasomnias that emerge from incomplete arousal out of Non-Rem Sleep (NREM) and lead to a broad variety of emotional and motor behaviours. Increasing evidence supports the hypothesis that specific psychopathological traits contribute to the multifactorial origin of these phenomena. The aim of the...

Uploaded on: February 11, 2024