Listen Carefully Positional Cloning of an Audiogenic Seizure Mutation May Yield Frings Benefits
نویسنده
چکیده
Neurologists have long sought to understand what precipitates individual seizures in epileptic patients. Studies of reflex epilepsies seem well suited to this task. In this issue of Neuron, Skradski et al. describe a mutation in a novel gene underlying audiogenic seizures in the Frings mouse, providing a valuable resource for elucidating the pathophysiological mechanisms of this inherited form of reflex epilepsy.
منابع مشابه
Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice.
Epilepsy is a debilitating disease with a strong genetic component. Positional cloning has identified a few genes for rare monogenic epilepsy syndromes; however, the genetics of common human epilepsies are too complex to be analyzed easily by current techniques. Mouse models of epilepsy can further this analysis by eliminating genetic background heterogeneity and enabling the production of suff...
متن کاملA common protein interaction domain links two recently identified epilepsy genes.
Until recently, all genes found to be mutated in hereditary idiopathic epilepsies encoded subunits of ion channels, leading to the view of this class of diseases as channelopathies. Two apparent exceptions to this rule are the MASS1 gene, which is mutated in the Frings mouse model of audiogenic epilepsy, and the LGI1 gene, which is mutated in autosomal dominant partial epilepsy with auditory fe...
متن کاملBehavioral and EEG effects of GABAergic manipulation of the nigrotectal pathway in the Wistar audiogenic rat strain
The superior colliculus (SC), substantia nigra pars reticulata (SNPr), and striatum have been characterized as important structures involved in the modulation of seizure activity. In the current study, bicuculline (GABA(A) antagonist) and muscimol (GABA(A) agonist) were microinjected into the deep layers of either the anterior SC (aSC) or posterior SC (pSC) of genetically developed Wistar audio...
متن کاملIntractable reflex audiogenic epilepsy successfully treated by peri-insular hemispherotomy
We report a case of an infantile hemiplegia seizure syndrome (IHSS) that presented with intractable reflex audiogenic startle epilepsy which in itself is an uncommon form of seizure disorder. Peri-insular hemispherotomy provided complete seizure control. Also of particular interest was that this syndrome resulted from an iatrogenic brain injury sustained during the course of a caesarian section...
متن کاملAudiogenic Seizures and Their Importance in Experimental Behavioral Studies: A Review
The aim of this review is to explain and detail the role of audiogenic seizures (ASs) in neurobiological events occurring in the central nervous system (CNS) and their importance in experimental models in light of the current literature. Audiogenic seizures are a model of generalized tonic-clonic seizures, which are brainstem-generated. The rodent audiogenic seizure is a biological and genetic ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Neuron
دوره 31 شماره
صفحات -
تاریخ انتشار 2001