Dynamin, the founding member of a family of dynamin-like proteins (DLPs) implicated in
membrane remodelling, has a critical role in endocytic membrane fission events. The use of …

In recent years, sensory neuroscientists have made major efforts to dissect the structure and
function of ribbon synapses which process sensory information in the eye and ear. This …

Despite three decades of successful, predominantly phenotype-driven discovery of the
genetic causes of monogenic disorders, up to half of children with severe developmental …

Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …

Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …

MicroRNAs (miRNAs) regulate many cellular events during brain development by interacting
with hundreds of mRNA transcripts. However, miRNAs operate nonuniformly upon the …

Technological advances have paved the way for accelerated genomic discovery and are
bringing precision medicine clearly into view. Epilepsy research in particular is well suited to …

Summary Synaptojanin 1 (SJ1) is a major presynaptic phosphatase that couples synaptic
vesicle endocytosis to the dephosphorylation of PI (4, 5) P 2, a reaction needed for the …

Dynamin, which is encoded by three genes in mammals, is a GTPase implicated in
endocytic membrane fission. Dynamin 1 and 3 are predominantly expressed in brain …

Against the odds of membrane resistance, members of the BIN/Amphiphysin/Rvs (BAR)
domain superfamily shape membranes and their activity is indispensable for a plethora of …