Elly Lewerissa
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View article: <i>CACNA1A</i> haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability
<i>CACNA1A</i> haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability Open
Haploinsufficiency of CACNA1A, encoding the pore-forming α1 subunit of P/Q-type voltage-gated calcium channels, is associated with a clinically variable phenotype ranging from cerebellar ataxia to neurodevelopmental syndromes with epilepsy…
View article: Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome
Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome Open
Koolen-de Vries Syndrome (KdVS) is a neurodevelopmental disorder (NDD) with no treatment options due to a lack of understanding of its underlying pathophysiology. To investigate neuronal activity in KdVS, human induced pluripotent stem cel…
View article: <i>CACNA1A</i>haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability
<i>CACNA1A</i>haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability Open
Haploinsufficiency of the CACNA1A gene, encoding the pore-forming α1 subunit of P/Q-type voltage-gated calcium channels, is associated with a clinically variable phenotype ranging from cerebellar ataxia, to neurodevelopmental syndromes wit…
View article: Epigenetic regulation of <i>autophagy-related</i> genes: Implications for neurodevelopmental disorders
Epigenetic regulation of <i>autophagy-related</i> genes: Implications for neurodevelopmental disorders Open
Macroautophagy/autophagy is an evolutionarily highly conserved catabolic process that is important for the clearance of cytosolic contents to maintain cellular homeostasis and survival. Recent findings point toward a critical role for auto…
View article: <i>SCN1A</i> -deficient excitatory neuronal networks display mutation-specific phenotypes
<i>SCN1A</i> -deficient excitatory neuronal networks display mutation-specific phenotypes Open
Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures, behavioural problems and developmental delay. Eighty per cent of patients with Dravet syndrome have a mutation in SCN1A, encoding Nav1.1. Milder cli…
View article: <i>ANK2</i> loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
<i>ANK2</i> loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks Open
Purpose To characterize a novel neurodevelopmental syndrome due to loss-of-function (LoF) variants in Ankyrin 2 (ANK2), and to explore the effects on neuronal network dynamics and homeostatic plasticity in human-induced pluripotent stem ce…
View article: Neuronal network activity and connectivity are impaired in a conditional knockout mouse model with PCDH19 mosaic expression
Neuronal network activity and connectivity are impaired in a conditional knockout mouse model with PCDH19 mosaic expression Open
Mutations in PCDH19 gene, which encodes protocadherin-19 (PCDH19), cause Developmental and Epileptic Encephalopathy 9 (DEE9). Heterogeneous loss of PCDH19 expression in neurons is considered a key determinant of the disorder; however, how …
View article: <i>SCN1A</i>-deficient hiPSC-derived excitatory neuronal networks display mutation-specific phenotypes
<i>SCN1A</i>-deficient hiPSC-derived excitatory neuronal networks display mutation-specific phenotypes Open
Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures, behavioral problems and developmental delay. 80% of Dravet syndrome patients have a mutation in SCN1A , encoding Na V 1.1. Milder clinical phenotype…
View article: The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes
The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes Open
Protocadherin-19 (PCDH19) is a synaptic cell-adhesion molecule encoded by X-linked PCDH19, a gene linked with epilepsy. Here, we report a synapse-to-nucleus signaling pathway through which PCDH19 bridges neuronal activity with gene express…
View article: Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders Open
Macroautophagy (hereafter referred to as autophagy) is a finely tuned process of programmed degradation and recycling of proteins and cellular components, which is crucial in neuronal function and synaptic integrity. Mounting evidence impl…
View article: Loss-of-function variants in the schizophrenia risk gene <i>SETD1A</i> alter neuronal network activity in human neurons through cAMP/PKA pathway
Loss-of-function variants in the schizophrenia risk gene <i>SETD1A</i> alter neuronal network activity in human neurons through cAMP/PKA pathway Open
Summary Heterozygous loss-of-function (LoF) mutations in SETD1A , which encodes a subunit of histone H3 lysine 4 methyltransferase, were shown to cause a novel neurodevelopmental syndrome and increase the risk for schizophrenia. We generat…
View article: Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders Open
Macroautophagy (hereafter referred to as autophagy) is a finely tuned process of programmed degradation and recycling of proteins and cellular components, which is crucial in neuronal function and synaptic integrity. Mounting evidence impl…
View article: Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders Open
Macroautophagy (hereafter referred to as autophagy) is a finely tuned process of programmed degradation and recycling of proteins and cellular components, which is crucial in neuronal function and synaptic integrity. Mounting evidence impl…