This POLG1 mutation phenotype is characterized by refractory epilepsy with recurrent status epilepticus and episodes of epilepsia partialis continua, which often necessitate admission to the intensive care unit (ICU) and pose an important mortality risk.
Absence of the GluA1 subunit prevented enhancement of glutamatergic synaptic transmission associated with status epilepticus; however, γ-aminobutyric acidergic synaptic inhibition was compromised.
The GABA<sub>B</sub> antagonist exhibited proconvulsant effect in P15 and P18SE as well as LiPAR rats returning the incidence of PTZ-induced seizures to values of control animals.
We describe three children with genetically different sodium channel alpha 1 subunit (SCN1A) mutation associated epilepsy who experienced a sudden and sustained neurologic regression following status epilepticus in two and acute sepsis in one.
We identified 3 patients with KCNA2 mutations with novel characteristics, including electrical status epilepticus of sleep, continuous polymyoclonus and status epilepticus.
Our results expand the genotype and phenotypes of SZT2-related DEEs, suggesting that SZT2 mutations play a role in developmental delay and epileptic encephalopathy, with high susceptibility to SE and relatively specific MRI findings.
PKC, AKT and ERK1/2-Mediated Modulations of PARP1, NF-κB and PEA15 Activities Distinctly Regulate Regional Specific Astroglial Responses Following Status Epilepticus.
The polymorphism DRD4_VNTR was associated with family history of epilepsy (P = 0.003), DRD2_rs1800497 was related to status epilepticus (P = 0.022), and intron 8 VNTR DAT was related to higher seizure frequency (P = 0.019) and family history of epilepsy (P = 0.011).
The GABA<sub>B</sub> antagonist exhibited proconvulsant effect in P15 and P18SE as well as LiPAR rats returning the incidence of PTZ-induced seizures to values of control animals.
The GABA<sub>B</sub> antagonist exhibited proconvulsant effect in P15 and P18SE as well as LiPAR rats returning the incidence of PTZ-induced seizures to values of control animals.
The GABA<sub>B</sub> antagonist exhibited proconvulsant effect in P15 and P18SE as well as LiPAR rats returning the incidence of PTZ-induced seizures to values of control animals.
Attenuating M-current suppression in vivo by a mutant Kcnq2 gene knock-in reduces seizure burden and prevents status epilepticus-induced neuronal death and epileptogenesis.
The polymorphism DRD4_VNTR was associated with family history of epilepsy (P = 0.003), DRD2_rs1800497 was related to status epilepticus (P = 0.022), and intron 8 VNTR DAT was related to higher seizure frequency (P = 0.019) and family history of epilepsy (P = 0.011).
The GABA<sub>B</sub> antagonist exhibited proconvulsant effect in P15 and P18SE as well as LiPAR rats returning the incidence of PTZ-induced seizures to values of control animals.