Amanda M. Levy

The clinical trajectory and everyday life of adults with DLG4-related synaptopathy: Caregiver-reported experiences

Zeynep Tümer, Amanda M. Levy, Benedetta Kassabian, Alejandro Brea‐Fernández et autres

dk, es, Maroc, it, fr (code pays fourni par la source)

Transcriptome- and Epigenome-Wide Association Studies of Tic Spectrum Disorder in Discordant Monozygotic Twins

Jonas Dalsberg, Cathrine Jespersgaard, Amanda M. Levy, Anna Maria Asplund et autres

Background: Tic spectrum disorder (TSD), encompassing Tourette syndrome and chronic tic disorder, is a childhood-onset neurodevelopmental condition with complex genetic and environmental contributions. Heritable components have been implicated in TSD, but no clear genetic mechanisms have been identified. Significant aspects of TSD …

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Transcriptome- and Epigenome-Wide Association Studies of Tic Spectrum Disorder in Discordant Monozygotic Twins

Jonas Dalsberg, Amanda M. Levy, Anna Asplund, Frederik Otzen Bagger et autres

Tic spectrum disorder (TSD), including Tourette syndrome and chronic tic disorder, is a childhood-onset neurodevelopmental condition with complex genetic and environmental contributions. To investigate environmentally driven mechanisms, we analyzed peripheral blood from eleven monozygotic twin pairs either discordant or concordant for TSD …

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The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants

Francesca Furia, Amanda M. Levy, Miel Theunis, Michael J. Bamshad et autres

ANK3 encodes ankyrin-G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin-G isoforms comprising different domains with distinct expression patterns. Mono- or biallelic ANK3 variants are associated with non-specific syndromic intellectual disability in 14 individuals (seven …

dk, us, nl, it, fr, au, de, es, be (code pays fourni par la source)

Developmental epileptic encephalopathy in DLG4 ‐related synaptopathy

Benedetta Kassabian, Amanda M. Levy, Elena Gardella, Ángel Aledo‐Serrano et autres

OBJECTIVE: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, …

it, dk, Bénin, au, es, us, fr, be, pl, fi, de, ru, pk, nl, at, ca, sa (code pays fourni par la source)

A deep intronic DLG4 variant resulting in DLG4 ‐related synaptopathy

Amanda M. Levy, Mythily Ganapathi, Wendy K. Chung, Zeynep Tümer

The rare autosomal dominant brain disorder DLG4-related synaptopathy is caused by de novo variants in DLG4 (encoding PSD-95), the majority of which are predicted to be protein-truncating. In addition to splice site variants, a number of synonymous and missense DLG4 variants are …

dk, us (code pays fourni par la source)

Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome

Victoria Alexandra Bjerregaard, Amanda M. Levy, Mille S. Batz, Ravina Salehi et autres

FOXG1 (Forkhead box g1) syndrome is a neurodevelopmental disorder caused by a defective transcription factor, FOXG1, important for normal brain development and function. As FOXG1 syndrome and mitochondrial disorders have shared symptoms and FOXG1 regulates mitochondrial function, we investigated whether defective FOXG1 …

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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Maria Bejerholm Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta et autres

Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, we obtained phenotype and genotype information of …

dk, bd, it, gb, ae, jp, in, be, de, fr, ir, az, us, es, Égypte (code pays fourni par la source)

Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners

Amanda M. Levy, Paulino Gómez‐Puertas, Zeynep Tümer

The postsynaptic density (PSD) is a massive protein complex, critical for synaptic strength and plasticity in excitatory neurons. Here, the scaffolding protein PSD-95 plays a crucial role as it organizes key PSD components essential for synaptic signaling, development, and survival. Recently, variants …

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Mitochondrial dysfunction in FOXG1 syndrome

Victoria Alexandra Bjerregaard, Amanda M. Levy, Mathis Hildonen, Rikke Steensbjerre Møller et autres

dk, us (code pays fourni par la source)

Elevated expression of SLC6A4 encoding the serotonin transporter (SERT) in Gilles de la Tourette syndrome

Amanda M. Levy, Mathis Hildonen, Christina Dahl, Victoria Alexandra Bjerregaard et autres

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Smitha Kumble, Amanda M. Levy, Jaya Punetha, Hua Gao et autres

De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability (ID). The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum …

au, dk, us, pt, ch, fr, es, de (code pays fourni par la source)