Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome

Summary

Objective

Two major classes of SCN1A variants are associated with Dravet syndrome (DS): those that result in haploinsufficiency (truncating) and those that result in an amino acid substitution (missense). The aim of this retrospective study was to describe the first large cohort of Japanese patients with SCN1A mutation–positive DS (n = 285), and investigate the relationship between variant (type and position) and clinical expression and response to treatment.

Methods

We sequenced all exons and intron–exon boundaries of SCN1A in ...

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Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome

Summary

Objective

Two major classes of SCN1A variants are associated with Dravet syndrome (DS): those that result in haploinsufficiency (truncating) and those that result in an amino acid substitution (missense). The aim of this retrospective study was to describe the first large cohort of Japanese patients with SCN1A mutation–positive DS (n = 285), and investigate the relationship between variant (type and position) and clinical expression and response to treatment.

Methods

We sequenced all exons and intron–exon boundaries of SCN1A in ...

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0

Verbal memory after temporal lobe epilepsy surgery in children: Do only mesial structures matter?

Summary

Objective

Previous findings have been mixed regarding verbal memory outcome after left temporal lobectomy in children, and there are few studies comparing verbal memory change after lateral versus mesial temporal lobe resections. We compared verbal memory outcome associated with sparing or including the mesial structures in children who underwent left or right temporal lobe resection. We also investigated predictors of postsurgical verbal memory change.

Methods

We retrospectively assessed verbal memory change approximately 1 year after unilateral temporal lobe epilepsy ...

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Verbal memory after temporal lobe epilepsy surgery in children: Do only mesial structures matter?

Summary

Objective

Previous findings have been mixed regarding verbal memory outcome after left temporal lobectomy in children, and there are few studies comparing verbal memory change after lateral versus mesial temporal lobe resections. We compared verbal memory outcome associated with sparing or including the mesial structures in children who underwent left or right temporal lobe resection. We also investigated predictors of postsurgical verbal memory change.

Methods

We retrospectively assessed verbal memory change approximately 1 year after unilateral temporal lobe epilepsy ...

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TRPC3 channels play a critical role in the theta component of pilocarpine-induced status epilepticus in mice

Summary

Objective

Canonical transient receptor potential (TRPC) channels constitute a family of cation channels that exhibit a regional and cell-specific expression pattern throughout the brain. It has been reported previously that TRPC3 channels are effectors of the brain-derived neurotrophic factor (BDNF)/trkB signaling pathway. Given the long postulated role of BDNF in epileptogenesis, TRPC3 channels may be a critical component in the underlying pathophysiology of seizure and epilepsy. In this study, we investigated the precise role of TRPC3 channels in ...

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Evidence for a differential interaction of brivaracetam and levetiracetam with the synaptic vesicle 2A protein

Summary

Objective

Brivaracetam (BRV) and levetiracetam (LEV) are effective antiepileptic drugs that bind selectively to the synaptic vesicle 2A (SV2A) protein. However, BRV differs from LEV in that it exhibits more potent and complete seizure suppression in animal models including in amygdala-kindled mice, where BRV afforded nearly complete seizure suppression. This raises the possibility that aside from potency differences, BRV and LEV may interact differently with the SV2A protein, which is not apparent in radioligand-binding competition studies. In this ...

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Time to onset of sustained ≥50% responder status in patients with focal (partial-onset) seizures in three phase III studies of adjunctive brivaracetam treatment

Summary

Time to onset of sustained ≥50% responder status (SRS) was assessed for the pooled patient population receiving brivaracetam (BRV) 50, 100, or 200 mg/day or placebo in three randomized phase III studies (NCT00464269, NCT00490035, and NCT01261325). Patients were aged ≥16 years with well-characterized focal (partial-onset) seizures (FS) uncontrolled by 1–2 concomitant antiepileptic drugs. After an 8-week baseline period, patients received study drug without up-titration for a 12-week (84-day) treatment period. A patient was a sustained ≥50% responder ...

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Time to onset of sustained ≥50% responder status in patients with focal (partial-onset) seizures in three phase III studies of adjunctive brivaracetam treatment

Summary

Time to onset of sustained ≥50% responder status (SRS) was assessed for the pooled patient population receiving brivaracetam (BRV) 50, 100, or 200 mg/day or placebo in three randomized phase III studies (NCT00464269, NCT00490035, and NCT01261325). Patients were aged ≥16 years with well-characterized focal (partial-onset) seizures (FS) uncontrolled by 1–2 concomitant antiepileptic drugs. After an 8-week baseline period, patients received study drug without up-titration for a 12-week (84-day) treatment period. A patient was a sustained ≥50% responder ...

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Ictal asystole: A systematic review

Summary

Objective

To comprehensively analyze ictal asystole (IA) on a large number of subjects.

Methods

We performed a systematic review of case report studies of patients diagnosed with IA (1983–2016). Each included case was characterized with respect to patient history, IA seizure characteristics, diagnostic workup, and therapy. In addition, comparative analyses were also carried out: two alignments were developed based on the delay between epilepsy onset and IA onset (“new-onset” if <1 year, “late-onset” if ≥1 year) and asystole duration ...

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Ictal asystole: A systematic review

Summary

Objective

To comprehensively analyze ictal asystole (IA) on a large number of subjects.

Methods

We performed a systematic review of case report studies of patients diagnosed with IA (1983–2016). Each included case was characterized with respect to patient history, IA seizure characteristics, diagnostic workup, and therapy. In addition, comparative analyses were also carried out: two alignments were developed based on the delay between epilepsy onset and IA onset (“new-onset” if <1 year, “late-onset” if ≥1 year) and asystole duration ...

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