Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …
disorders characterized by early-onset, often severe epileptic seizures and EEG …
Developmental and epileptic encephalopathies
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …
characterized by seizures and frequent epileptiform activity associated with developmental …
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
H Stranneheim, K Lagerstedt-Robinson… - Genome Medicine, 2021 - Springer
Background We report the findings from 4437 individuals (3219 patients and 1218 relatives)
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …
Calcium channelopathies and intellectual disability: a systematic review
M Kessi, B Chen, J Peng, F Yan, L Yang… - Orphanet journal of rare …, 2021 - Springer
Background Calcium ions are involved in several human cellular processes including
corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between …
corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between …
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
Abstract CTP: phosphoethanolamine cytidylyltransferase (ET), encoded by PCYT2, is the
rate-limiting enzyme for phosphatidylethanolamine synthesis via the CDP-ethanolamine …
rate-limiting enzyme for phosphatidylethanolamine synthesis via the CDP-ethanolamine …
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
Malfunctions of voltage-gated sodium and calcium channels (encoded by SCNxA and
CACNA1x family genes, respectively) have been associated with severe neurologic …
CACNA1x family genes, respectively) have been associated with severe neurologic …
Structures of the R-type human Cav2.3 channel reveal conformational crosstalk of the intracellular segments
The R-type voltage-gated Ca2+ (Cav) channels Cav2. 3, widely expressed in neuronal and
neuroendocrine cells, represent potential drug targets for pain, seizures, epilepsy, and …
neuroendocrine cells, represent potential drug targets for pain, seizures, epilepsy, and …
[HTML][HTML] The human channel gating–modifying A749G CACNA1D (Cav1. 3) variant induces a neurodevelopmental syndrome–like phenotype in mice
Germline de novo missense variants of the CACNA1D gene, encoding the pore-forming α1
subunit of Cav1. 3 L-type Ca 2+ channels (LTCCs), have been found in patients with …
subunit of Cav1. 3 L-type Ca 2+ channels (LTCCs), have been found in patients with …
Ion channel functions in early brain development
During prenatal brain development, ion channels are ubiquitous across several cell types,
including progenitor cells and migrating neurons but their function has not been clear. In the …
including progenitor cells and migrating neurons but their function has not been clear. In the …
Neuronal Cav3 channelopathies: recent progress and perspectives
P Lory, S Nicole, A Monteil - Pflügers Archiv-European Journal of …, 2020 - Springer
T-type, low-voltage activated, calcium channels, now designated Cav3 channels, are
involved in a wide variety of physiological functions, especially in nervous systems. Their …
involved in a wide variety of physiological functions, especially in nervous systems. Their …