… Pierre-Yves Maillard, Sarah Baer, Béatrice Desnous, Anne de Saint Martin, and Mathieu
Milh contributed to study design and conceptualization, data collection, analysis, interpretation …

Purpose Germline WWOX pathogenic variants have been associated with disorder of sex
differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic …

Early development of somatotopic cortical maps occurs during the fetal period in humans
and during the postnatal period in rodents. During this period, the sensorimotor cortex …

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Na v 1.2, have
been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we …

N-methyl-D-aspartate (NMDA) receptors mediate excitatory neurotransmission in the
mammalian brain. Two glycine-binding NR1 subunits and two glutamate-binding NR2 subunits …

Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been
shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, …

Developing cortex generates endogenous activity that modulates the formation of functional
units, but how this activity is altered to support mature function is poorly understood. Using …

Background: There have been few epidemiologic studies on neuromyelitis optica (NMO)
and none used the recent 2006 diagnostic criteria. Here we describe the clinical, laboratory, …

Delta-brush is the dominant pattern of rapid oscillatory activity (8–25 Hz) in the human
cortex during the third trimester of gestation. Here, we studied the relationship between delta-…

Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding
the NMDA receptor subunit GluN1 and to investigate their underlying functional …