PRICKLE2 Mutations Might Not Be Involved in Epilepsy
نویسندگان
چکیده
منابع مشابه
Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare familial seizure disorder caused by mutations in at least two different subunit genes of the neuronal nicotinic acetylcholine receptor (nAChR), CHRNA4 and CHRNB2. ADNFLE was initially described as a "pure" seizure disorder with a mostly benign course. We have analysed the clinical features of 19 ADNFLE families from 12 countr...
متن کاملWhat Might Cognition Be, If Not Computation?
structure of the target phenomenon, for various reasons researchers in this approach standardly provide a concrete model: an actual computer programmed so that (hopefully) it realizes the same (or a relevantly similar) abstract computational system as is realized by the cognitive systems under study. If the concrete model appears able to perform actual cognitive tasks in much the way people do,...
متن کاملWhen Left Might Not Be Right
Copyright © 2010-2011, Usability Professionals’ Association and the authors. Permission to make digital or hard copies of all or part of this work for personal or classroom use is granted without fee provided that copies are not made or distributed for profit or commercial advantage and that copies bear this notice and the full citation on the first page. To copy otherwise, or republish, to pos...
متن کاملInverting onto functions might not be hard
The class TFNP, defined by Megiddo and Papadimitriou, consists of multivalued functions with values that are polynomially verifiable and guaranteed to exist. Do we have evidence that such functions are hard, for example, if TFNP is computable in polynomial-time does this imply the polynomial-time hierarchy collapses? We give a relativized negative answer to this question by exhibiting an oracle...
متن کاملWhat some concepts might not be.
A discussion of the difficulties of prototype theories for describing compositional meaning motivates three experiments that inquire how well-defined concepts fare under paradigms that are commonly interpreted to support the prototype view. The stimulus materials include exemplars of prototype categories (sport, vehicle, fruit, vegetable) previously studied by others, and also exemplars of supp...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2016
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2016.01.009