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 …
A review of febrile seizures: recent advances in understanding of febrile seizure pathophysiology and commonly implicated viral triggers
Febrile seizures are one of the commonest presentations in young children, with a 2–5%
incidence in Western countries. Though they are generally benign, with rare long-term …
incidence in Western countries. Though they are generally benign, with rare long-term …
The genetic landscape of epilepsy of infancy with migrating focal seizures
R Burgess, S Wang, A McTague, KE Boysen… - Annals of …, 2019 - Wiley Online Library
Objective Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe
developmental and epileptic encephalopathies. We delineate the genetic causes and …
developmental and epileptic encephalopathies. We delineate the genetic causes and …
Hyperpolarization-activated cyclic nucleotide-gated channels as drug targets for neurological disorders
B Santoro, MM Shah - Annual review of pharmacology and …, 2020 - annualreviews.org
The hyperpolarization-activated cyclic nucleotide-gated (HCN) channels are voltage-gated
ion channels that critically modulate neuronal activity. Four HCN subunits (HCN1–4) have …
ion channels that critically modulate neuronal activity. Four HCN subunits (HCN1–4) have …
Cardiac and neuronal HCN channelopathies
I Rivolta, A Binda, A Masi, JC DiFrancesco - Pflügers Archiv-European …, 2020 - Springer
Hyperpolarization-activated cyclic nucleotide–gated (HCN) channels are expressed as four
different isoforms (HCN1-4) in the heart and in the central and peripheral nervous systems …
different isoforms (HCN1-4) in the heart and in the central and peripheral nervous systems …
Genome-wide association of endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia (COGS) study
Importance The Consortium on the Genetics of Schizophrenia (COGS) uses quantitative
neurophysiological and neurocognitive endophenotypes with demonstrated deficits in …
neurophysiological and neurocognitive endophenotypes with demonstrated deficits in …
Fetal exposure to valproic acid dysregulates the expression of autism-linked genes in the developing cerebellum
M Guerra, V Medici, R Weatheritt, V Corvino… - Translational …, 2023 - nature.com
Autism spectrum disorder (ASD) includes a set of highly heritable neurodevelopmental
syndromes characterized by social and communication impairment, repetitive behaviour …
syndromes characterized by social and communication impairment, repetitive behaviour …
Homeostatic plasticity in epilepsy
In the healthy brain, neuronal excitability and synaptic strength are homeostatically
regulated to keep neuronal network activity within physiological boundaries. Epilepsy is …
regulated to keep neuronal network activity within physiological boundaries. Epilepsy is …
The contribution of HCN channelopathies in different epileptic syndromes, mechanisms, modulators, and potential treatment targets: a systematic review
M Kessi, J Peng, H Duan, H He, B Chen… - Frontiers in Molecular …, 2022 - frontiersin.org
Background Hyperpolarization-activated cyclic nucleotide-gated (HCN) current reduces
dendritic summation, suppresses dendritic calcium spikes, and enables inhibitory GABA …
dendritic summation, suppresses dendritic calcium spikes, and enables inhibitory GABA …
The HCN domain couples voltage gating and cAMP response in hyperpolarization-activated cyclic nucleotide-gated channels
A Porro, A Saponaro, F Gasparri, D Bauer, C Gross… - Elife, 2019 - elifesciences.org
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control spontaneous
electrical activity in heart and brain. Binding of cAMP to the cyclic nucleotide-binding domain …
electrical activity in heart and brain. Binding of cAMP to the cyclic nucleotide-binding domain …