Lindsay C. Swanson

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati et autres

Neurodevelopmental proteasomopathies are a group of disorders caused by variants in proteasome subunit genes, that disrupt protein homeostasis and brain development through poorly characterized mechanisms. Here, we report 26 distinct variants in PSMC5, encoding the AAA⁺ ATPase subunit PSMC5/RPT6, in individuals with …

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The natural history of CDKL5 deficiency disorder into adulthood

Ángel Aledo‐Serrano, David J. Lewis-Smith, Helen Leonard, Allan Bayat et autres

deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical for clinical decision-making and future precision medicine approaches but is challenging because of the diagnostic gap and duration of follow-up …

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Bipolar Disorder in a female with CDKL5 Deficiency Disorder: A Case Report

Jenna Lucash, William Hong, Lindsay C. Swanson, Kiran Prasad Maski et autres

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Deletions in the CDKL5 5′ untranslated region lead to CDKL5 deficiency disorder

Isabel Haviland, Ralph D. Hector, Lindsay C. Swanson, Aubrie Soucy Verran et autres

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. Deletions affecting the 5' untranslated region (UTR) of CDKL5, which involve the noncoding exon 1 and/or alternatively spliced first …

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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Maria Carla Borroto, Heena Patel, Siddharth Srivastava, Lindsay C. Swanson et autres

BACKGROUND: GTPases of the Rab family are important orchestrators of membrane trafficking, and their dysregulation has been linked to a variety of neuropathologies. In 2017, we established a causal link between RAB11A variants and developmental and epileptic encephalopathy. In this study, we …

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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Tzung‐Chien Hsieh et autres

Abstract Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis. In our comprehensive study, we identified 23 unique variants in PSMC5 , which encodes the …

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Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first‐line therapies

Heather E. Olson, Scott Demarest, Elia Pestana‐Knight, Ahsan N. V. Moosa et autres

OBJECTIVE: We aimed to assess the treatment response of infantile-onset epileptic spasms (ES) in CDKL5 deficiency disorder (CDD) vs other etiologies. METHODS: We evaluated patients with ES from the CDKL5 Centers of Excellence and the National Infantile Spasms Consortium (NISC), with onset …

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Comparison of evoked potentials across four related developmental encephalopathies

Joni N. Saby, Sarika U. Peters, Tim A. Benke, Shannon M. Standridge et autres

BACKGROUND: Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking. We have previously demonstrated the feasibility and tracking of evoked potentials to disease severity in Rett syndrome …

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Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies

Isabel Haviland, Carolyn I. Daniels, Caitlin A. Greene, Jacqueline M. Drew et autres

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Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome

Stephanie A. Zlatic, Duc Minh Duong, Kamal K.E. Gadalla, Brenda Murage et autres

MECP2 loss-of-function mutations cause Rett syndrome, a neurodevelopmental disorder resulting from a disrupted brain transcriptome. How these transcriptional defects are decoded into a disease proteome remains unknown. We studied the proteome of Rett cerebrospinal fluid (CSF) to identify consensus Rett proteome and …

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Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

Laura A. Keehan, Isabel Haviland, Yoel Gofin, Lindsay C. Swanson et autres

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is caused by heterozygous or hemizygous variants in CDKL5 and is characterized by refractory epilepsy, cognitive and motor impairments, and cerebral visual impairment. CDKL5 has multiple transcripts, of which the longest transcripts, NM_003159 and NM_001037343, …

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Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder

Joni N. Saby, Patrick J. Mulcahey, Alexis E. Zavez, Sarika U. Peters et autres

CDKL5 deficiency disorder is a debilitating developmental and epileptic encephalopathy for which no targeted treatment exists. A number of promising therapeutics are under development for CDKL5 deficiency disorder but a lack of validated biomarkers of brain function and clinical severity may limit …

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