A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

Yamada, Jun; Zhu, Gang; Okada, Motohiro; Hirose, Shinichi; Yoshida, Shukuko; Shiba, Yuko; Migita, Keisuke; Mori, Fumiaki; Sugawara, Takayuki; Chen, Lei; Liu, Fang; Yoshida, Shuichi; Ueno, Shinji; Kaneko, Sunao

doi:10.1016/j.eplepsyres.2013.08.018

Cited by 20 publications

(23 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although the precise mechanisms underlying temporal events remain unknown, early treatment (before onset of epilepsy) with appropriate methods to prevent or modify epileptogenesis and/or ictogenesis will lead to new therapies, prevention, or even cure [17,26,27]. Epileptogenesis and/or ictogenesis are the processes whereby a normal brain becomes progressively epileptic because of precipitating injuries (factors) such as genetic influence, brain anomaly and metabolic failure.…”

Section: Discussionmentioning

confidence: 99%

Age at onset and response to antiepileptic drugs in patients with various subtypes of idiopathic generalized epilepsy - preliminary investigation for the prevention of epilepsy

Takagi

Yamamoto

Hara

et al. 2018

E&S

Self Cite

View full text Add to dashboard Cite

Purpose: Epilepsy is a common neur ological disease that places sever e bur dens on patients over a ver y long period. Current treatments mainly involve antiepileptic drugs, but these do not cure epilepsy. Improvements in treatment methods and targets have thus been awaited. Antiepileptic drugs given before the onset of epilepsy have been shown to exert beneficial effects on epilepsy prognosis in rodent and human studies. To establish preventive approaches to epilepsy, we organized a study team to clarify the mean age at onset of each epilepsy phenotype classified into genetic generalized epilepsy. Methods: Patients with genetic gener alized epilepsy including epilepsy with gener alized tonic-clinic seizures on awakening, juvenile myoclonic epilepsy, juvenile absence epilepsy and childhood absence epilepsy, who visited our institutes between 2014 to 2016 were studied. Demographic data from these patients and their offspring were analyzed. Offspring were regarded as a high-risk group because of high hereditability of epilepsy. Results: The study population compr ised 154 patients (gener alized tonic-clonic seizures on awakening, n=76; juvenile myoclonic epilepsy, n=52; juvenile absence epilepsy, n=17; childhood absence epilepsy, n=9) and 30 offspring. Mean (±standard deviation) age of patients was 27.78±9.69 years. Mean age at onset was 16.05±6.44 years, and mean duration of disease was 11.36±9.84 years. A high rate of multiple antiepileptic drug use and long duration of disease were found in all types of epilepsy studied. Conclusion: This preliminar y study highlights the necessity for identification of offspr ing war r anting ear ly treatment together with optimal timing of such treatment. Abstract

show abstract

Section: Discussionmentioning

confidence: 99%

Age at onset and response to antiepileptic drugs in patients with various subtypes of idiopathic generalized epilepsy - preliminary investigation for the prevention of epilepsy

Takagi

Yamamoto

Hara

et al. 2018

E&S

Self Cite

View full text Add to dashboard Cite

show abstract

“…Patients with ADNFLE demonstrate various types of seizure behavior (Provini et al, 1999;Combi et al, 2004;Steinlein et al, 2012), thus the study of V286L may lead to an improved understanding of the phenotype-genotype relationship in this patient population. Furthermore, our previous study of S284L-TG rats revealed a perturbed GABAergic inhibitory system in brains of the TG, which has led to a novel prophylactic treatment for ADNFLE (Yamada et al, 2013). Understanding the differences in pathogenesis between S284L-TG and V286L-TG rats may contribute to the development of a novel mechanism-driven class of antiepileptic drugs.…”

Section: Comparison With ˛4 Transgenic Modelmentioning

confidence: 96%

Spontaneous epileptic seizures in transgenic rats harboring a human ADNFLE missense mutation in the β2-subunit of the nicotinic acetylcholine receptor

Shiba

Mori

Yamada

et al. 2015

Neuroscience Research

Self Cite

View full text Add to dashboard Cite

“…A Japanese Group (Hirosaki University) developed and tested a new version of the EpiGene that contains 35 genes and includes genes responsible for the side effects of AEDs (Sugawara et al, 2013). These authors showed that for some epilepsy phenotypes it is becoming possible to predict the most efficacious antiepileptic drugs for patients based on their genetic makeup (Yamada et al, 2013;Sugawara et al, 2013). In a similar way pharmacoresistance can be determined by genetic studies (Mirza et al, 2011;Lachos et al, 2011).…”

Section: Genetic Testing In the Epilepsiesmentioning

confidence: 97%

Genetic epilepsies. Remarks on the proposed “Organization of the Epilepsies”

Wieser¹

2014

Journal of Epileptology

View full text Add to dashboard Cite

SUMMARYIntroduction.Genetic findings in several epilepsy syndromes provide insights into the pathophysiology of specific subtypes of epilepsy and into mechanisms of epileptogenesis, because the genes encoding ion channels, and proteins associated to the vesical synaptic cycle, or involved in energy metabolism, influence neuronal excitability.Aim.The following aspects of genetic epilepsies will be discussed: new proposed “organization of the epilepsies”, genetic and other etiologies, electroclinical syndromes and their genetics and genetic testing in the epilepsies.Methods.The updated review is based on OMIM™ (Online Mendelian Inheritance in Man).Review and remarks.Because of the vast genetic and phenotypic heterogeneity, bridging genotype and phenotype remains a major challenge in epilepsy genetics. The so-called “idiopathic” epilepsies are genetically determined. The new ILAE proposal on the “organization” of the epilepsies takes into account the genetic advances. However, despite proposed changes in the nomenclature, the concept of the electroclinical syndrome, i.e. seizure types, age-dependent onset, electroencephalographic criteria, and concomitant symptoms, such as movement disorders or developmental delay, remain important criteria to group the epilepsies. Although also the differentiation “generalized” versus “focal” is nowadays discussed critically, for practical reasons these categories remain valid. Similarly the categories “benign” syndromes of early childhood, epileptic encephalopathies, and fever-associated syndromes, have their utility.Conclusions.The large number of genetic defects in the epilepsies complicates their analysis. However, it is anticipated that novel genetic methods, that are able to analyze all known genes at a reasonable price, will help identify novel diagnostic and therapeutic avenues, including prognostic and genetic counseling. Today it is already possible to include into genetic testing genes responsible for the side effects of AEDs. In addition, for some epilepsy phenotypes it has became possible to predict the most efficacious antiepileptic drugs for patients based on their genetic makeup. Thus, the development of individualized medicine is expected to greatly improve the management of epilepsy patients.

show abstract

A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

Cited by 20 publications

References 36 publications

Age at onset and response to antiepileptic drugs in patients with various subtypes of idiopathic generalized epilepsy - preliminary investigation for the prevention of epilepsy

Age at onset and response to antiepileptic drugs in patients with various subtypes of idiopathic generalized epilepsy - preliminary investigation for the prevention of epilepsy

Spontaneous epileptic seizures in transgenic rats harboring a human ADNFLE missense mutation in the β2-subunit of the nicotinic acetylcholine receptor

Genetic epilepsies. Remarks on the proposed “Organization of the Epilepsies”

Contact Info

Product

Resources

About