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1.
Epilepsy Behav Rep ; 21: 100591, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36843899

RESUMO

Reflex epilepsies are a unique and heterogeneous group of epilepsies characterized by recurrent seizure activity evoked by a specific external sensory stimulus or internal cognitive process. Reflex seizures can be part of other epilepsy syndromes including focal and generalized syndromes and have a growing spectrum of presentations. We report a further subtype of reflex seizures associated with towel exposure. We give an account of a case of drug-refractory focal epilepsy admitted to the Epilepsy Monitoring Unit for presurgical assessment with 50% of seizures triggered in response to the touch, feel, smell and thoughts around towels. We reviewed the literature regarding the broad phenotype of reflex epilepsies and seizures.

2.
Epilepsia ; 64(5): 1225-1235, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36790345

RESUMO

OBJECTIVE: Recent clinical trials have shown that cenobamate substantially improves seizure control in focal-onset drug-resistant epilepsy (DRE). However, little is known about cenobamate's performance in highly active (≥20 seizures/month) and ultra-refractory focal epilepsy (≥6 failed epilepsy treatments, including antiseizure medications [ASMs], epilepsy surgery, and vagus nerve stimulation). Here, we studied cenobamate's efficacy and tolerability in a "real-world" severe DRE cohort. METHODS: We conducted a single-center retrospective analysis of consecutive adults treated with cenobamate between October 2020 and September 2022. All patients received cenobamate through an Early Access Program. Cenobamate retention, seizure outcomes, treatment-emergent adverse events, and adjustments to concomitant ASMs were analyzed. RESULTS: Fifty-seven patients received cenobamate for at least 3 months (median duration, 11 months). The median cenobamate dose was 250 mg/day (range 75-350 mg). Baseline demographics were consistent with highly active (median seizure frequency, 60/month) and ultra-refractory epilepsy (median previously failed ASMs, nine). Most (87.8%) had prior epilepsy surgery and/or vagus nerve stimulation. Six patients stopped cenobamate due to lack of efficacy and/or adverse events. One patient died from factors unrelated to cenobamate. Among patients who continued cenobamate, three achieved seizure freedom (5.3% of cohort), 24 had a 75%-99% reduction in seizures (42.1% of cohort), and 16 had a 50%-74% reduction (28.1% of cohort). Cenobamate led to abolition of focal to bilateral tonic-clonic seizures in 55.6% (20/36) of patients. Among treatment responders, 67.4% (29/43) were treated with cenobamate doses of ≥250 mg/day. Three-fourths of patients reported at least one side-effect, most commonly fatigue and somnolence. Adverse events most commonly emerged at cenobamate doses of ≥250 mg/day. Side-effects were partially manageable by reducing the overall ASM burden, most often clobazam, eslicarbazepine, and perampanel. SIGNIFICANCE: Patients with highly active and ultra-refractory focal epilepsy experienced meaningful seizure outcomes on cenobamate. Emergence of adverse events at doses above 250 mg/day may limit the potential for further improvements in seizure control at higher cenobamate doses.


Assuntos
Epilepsia Resistente a Medicamentos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Epilepsias Parciais , Adulto , Humanos , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Estudos Retrospectivos , Epilepsias Parciais/tratamento farmacológico , Convulsões
3.
J Neurol Neurosurg Psychiatry ; 92(10): 1089-1095, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34400540

RESUMO

OBJECTIVES: We aimed to define the clinical and serological characteristics of pan-neurofascin antibody-positive patients. METHODS: We tested serum from patients with suspected immune-mediated neuropathies for antibodies directed against nodal/paranodal protein antigens using a live cell-based assay and solid-phase platform. The clinical and serological characteristics of antibody-positive and seronegative patients were then compared. Sera positive for pan-neurofascin were also tested against live myelinated human stem cell-derived sensory neurons for antibody binding. RESULTS: Eight patients with IgG1-subclass antibodies directed against both isoforms of the nodal/paranodal cell adhesion molecule neurofascin were identified. All developed rapidly progressive tetraplegia. Cranial nerve deficits (100% vs 26%), autonomic dysfunction (75% vs 13%) and respiratory involvement (88% vs 14%) were more common than in seronegative patients. Four patients died despite treatment with one or more modalities of standard immunotherapy (intravenous immunoglobulin, steroids and/or plasmapheresis), whereas the four patients who later went on to receive the B cell-depleting therapy rituximab then began to show progressive functional improvements within weeks, became seronegative and ultimately became functionally independent. CONCLUSIONS: IgG1 pan-neurofascin antibodies define a very severe autoimmune neuropathy. We urgently recommend trials of targeted immunotherapy for this serologically classified patient group.


Assuntos
Autoanticorpos , Imunoglobulina G/imunologia , Doenças do Sistema Nervoso Periférico/mortalidade , Corticosteroides/uso terapêutico , Adulto , Idoso , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso Periférico/tratamento farmacológico , Doenças do Sistema Nervoso Periférico/imunologia
4.
Artigo em Inglês | MEDLINE | ID: mdl-33178487

RESUMO

The diagnosis of a paroxysmal dyskinesia is difficult and status dystonicus is a rare life threatening movement disorder characterised by severe, frequent or continuous episodes of dystonic spasms. A 25 year old woman with chronic ataxia and paroxysmal dyskinesia presented with facial twitching, writhing of arms, oculogyric crisis and visual and auditory hallucinations. She developed respiratory failure and was ventilated. No cause was found so whole exome sequencing was performed and this revealed a novel, non-synonymous heterozygous variant in exon 11 of the KCNMA1 gene, K457E (c 1369A>G) in the patient but not her parents. This variant has not been previously reported in gnomAD or ClinVar. The finding of a de novo variant in a potassium channel gene guided a trial of the potassium channel antagonist 3,4 diaminopyridine resulting in significant improvement, discharge from the intensive care unit and ultimately home.


Assuntos
Ataxia/genética , Coreia/genética , Distonia/genética , Alucinações/genética , Subunidades alfa do Canal de Potássio Ativado por Cálcio de Condutância Alta/genética , Transtornos da Motilidade Ocular/genética , Adulto , Amifampridina/uso terapêutico , Ataxia/tratamento farmacológico , Ataxia/fisiopatologia , Coreia/tratamento farmacológico , Coreia/fisiopatologia , Distonia/tratamento farmacológico , Distonia/fisiopatologia , Eletroencefalografia , Feminino , Alucinações/tratamento farmacológico , Alucinações/fisiopatologia , Humanos , Transtornos da Motilidade Ocular/tratamento farmacológico , Transtornos da Motilidade Ocular/fisiopatologia , Bloqueadores dos Canais de Potássio/uso terapêutico
5.
Pract Neurol ; 18(5): 369-372, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29678961

RESUMO

Increasing availability of next-generation sequencing technologies has revealed several limitations of diagnosis-driven traditional clinicogenetic disease classifications, particularly among patients with an atypical or mixed phenotype. Hereditary spastic paraplegia (HSP) and spinocerebellar ataxia (SCA) are two such disease entities with an often overlapping presentation, in which next generation exome sequencing has played a key role in identification of genes causing disease along a continuum of ataxia and spasticity. We describe a patient who presented with features of both ataxia and spasticity, in whom initial diagnostic testing was inconclusive. Ultimately next generation exome sequencing identified homozygosity for a pathogenic variant in exon 13 of the CAPN1 gene c.1534C>T(p.Arg512Cys). This case supports consideration of a less discriminatory classification system among such patients, potentially allowing for more expedient diagnosis through testing of a larger gene panel along the 'ataxia-spasticity spectrum'.


Assuntos
Calpaína/genética , Mutação/genética , Paraplegia Espástica Hereditária/genética , Ataxias Espinocerebelares/genética , Adulto , Saúde da Família , Feminino , Humanos , Imageamento por Ressonância Magnética , Fenótipo , Paraplegia Espástica Hereditária/complicações , Paraplegia Espástica Hereditária/diagnóstico por imagem , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/diagnóstico por imagem
7.
Pract Neurol ; 18(1): 60-65, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28972032

RESUMO

Hypokalaemic periodic paralysis typically presents with intermittent mild-to-moderate weakness lasting hours to days. We report a case with an uncommon phenotype of late-onset myopathy without episodic paralytic attacks. Initial work-up including muscle biopsy was inconclusive. A subsequent review of the right deltoid biopsy, long exercise testing and repeated family history was helpful, followed by appropriate genetic testing. We identified a heterozygous pathogenic mutation in calcium ion channel (CACNA1S:c.1583G>A p.Arg528His) causing hypokalaemic periodic paralysis. Myopathy can present without episodic paralysis and the frequency of paralytic episodes does not correlate well with the development and progression of a fixed myopathy. Our report also highlights the intrafamilial phenotypic variation of hypokalaemic periodic paralysis secondary to a CACNA1S gene mutation.


Assuntos
Saúde da Família , Paralisia Periódica Hipopotassêmica/fisiopatologia , Idoso , Canais de Cálcio/genética , Feminino , Humanos , Paralisia Periódica Hipopotassêmica/diagnóstico por imagem , Paralisia Periódica Hipopotassêmica/genética , Imageamento por Ressonância Magnética , Mutação/genética , Fenótipo
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