Rapid and safe response to low-dose carbamazepine in neonatal epilepsy

To evaluate treatment responses in benign familial neonatal epilepsy (BFNE)

The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria

The field of epilepsy genetics is advancing rapidly and epilepsy is emerging as a frequent indication for diagnostic genetic testing. Within the larger ClinGen framework, the ClinGen Epilepsy Gene Curation Expert Panel is tasked with connecting two increasingly separate fields: the domain of traditional clinical epileptology, with its own established language and classification criteria, and the rapidly evolving area of diagnostic genetic testing that adheres to formal criteria for gene and variant curation. We identify critical components unique to the epilepsy gene curation effort, including: (a) precise phenotype definitions within existing disease and phenotype ontologies; (b) consideration of when epilepsy should be curated as a distinct disease entity; (c) strategies for gene selection; and (d) emerging rules for evaluating functional models for seizure disorders. Given that de novo variants play a prominent role in many of the epilepsies, sufficient genetic evidence is often awarded early in the curation process. Therefore, the emphasis of gene curation is frequently shifted toward an iterative precuration process to better capture phenotypic associations. We demonstrate that within the spectrum of neurodevelopmental disorders, gene curation for epilepsy-associated genes is feasible and suggest epilepsy-specific conventions, laying the groundwork for a curation process of all major epilepsy-associated genes

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional properties associated with KCNQ2 missense variants R144W, R144Q, and R144G. We also explored in vitro blockade of channels carrying R144Q mutant subunits by amitriptyline

Theory and description in African Linguistics: Selected papers from the 47th Annual Conference on African Linguistics

The papers in this volume were presented at the 47th Annual Conference on African Linguistics at UC Berkeley in 2016. The papers offer new descriptions of African languages and propose novel theoretical analyses of them. The contributions span topics in phonetics, phonology, syntax, semantics, and pragmatics and reflect the typological and genetic diversity of languages in Africa. Four papers in the volume examine Areal Features and Linguistic Reconstruction in Africa, and were presented at a special workshop on this topic held alongside the general session of ACAL

Theory and description in African Linguistics: Selected papers from the 47th Annual Conference on African Linguistics

The papers in this volume were presented at the 47th Annual Conference on African Linguistics at UC Berkeley in 2016. The papers offer new descriptions of African languages and propose novel theoretical analyses of them. The contributions span topics in phonetics, phonology, syntax, semantics, and pragmatics and reflect the typological and genetic diversity of languages in Africa. Four papers in the volume examine Areal Features and Linguistic Reconstruction in Africa, and were presented at a special workshop on this topic held alongside the general session of ACAL

Theory and description in African Linguistics: Selected papers from the 47th Annual Conference on African Linguistics

The papers in this volume were presented at the 47th Annual Conference on African Linguistics at UC Berkeley in 2016. The papers offer new descriptions of African languages and propose novel theoretical analyses of them. The contributions span topics in phonetics, phonology, syntax, semantics, and pragmatics and reflect the typological and genetic diversity of languages in Africa. Four papers in the volume examine Areal Features and Linguistic Reconstruction in Africa, and were presented at a special workshop on this topic held alongside the general session of ACAL

Theory and description in African Linguistics: Selected papers from the 47th Annual Conference on African Linguistics

The papers in this volume were presented at the 47th Annual Conference on African Linguistics at UC Berkeley in 2016. The papers offer new descriptions of African languages and propose novel theoretical analyses of them. The contributions span topics in phonetics, phonology, syntax, semantics, and pragmatics and reflect the typological and genetic diversity of languages in Africa. Four papers in the volume examine Areal Features and Linguistic Reconstruction in Africa, and were presented at a special workshop on this topic held alongside the general session of ACAL

Theory and description in African Linguistics: Selected papers from the 47th Annual Conference on African Linguistics

The papers in this volume were presented at the 47th Annual Conference on African Linguistics at UC Berkeley in 2016. The papers offer new descriptions of African languages and propose novel theoretical analyses of them. The contributions span topics in phonetics, phonology, syntax, semantics, and pragmatics and reflect the typological and genetic diversity of languages in Africa. Four papers in the volume examine Areal Features and Linguistic Reconstruction in Africa, and were presented at a special workshop on this topic held alongside the general session of ACAL

Theory and description in African Linguistics: Selected papers from the 47th Annual Conference on African Linguistics

The papers in this volume were presented at the 47th Annual Conference on African Linguistics at UC Berkeley in 2016. The papers offer new descriptions of African languages and propose novel theoretical analyses of them. The contributions span topics in phonetics, phonology, syntax, semantics, and pragmatics and reflect the typological and genetic diversity of languages in Africa. Four papers in the volume examine Areal Features and Linguistic Reconstruction in Africa, and were presented at a special workshop on this topic held alongside the general session of ACAL