-
Article
Open AccessAssessing the role of adolescent hormonal contraceptive use on risk for depression: a 3-year longitudinal study protocol
The incidence of depression in human females rises steadily throughout adolescence, a critical period of pubertal maturation marked by increasing levels of gonadal hormones including estrogens and progesterone...
-
Article
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects
Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic conditions that lead to secondary defects in...
-
Article
Open AccessCellular metabolism constrains innate immune responses in early human ontogeny
Pathogen immune responses are profoundly attenuated in fetuses and premature infants, yet the mechanisms underlying this developmental immaturity remain unclear. Here we show transcriptomic, metabolic and poly...
-
Article
Open AccessA systematic review of the effects of CYP2D6 phenotypes on risperidone treatment in children and adolescents
The second generation antipsychotic drug risperidone is widely used in the field of child and adolescent psychiatry to treat conditions associated with disruptive behavior, aggression and irritability, such as...
-
Article
Correction: Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Nat. Genet. 48, 777–784 (2016); published online 23 May 2016; corrected after print 6 March 2017 In the version of this article initially published, the name of author Torben Heise was given incorrectly as Tho...
-
Article
Open AccessA pharmacogenetic signature of high response to Copaxone in late-phase clinical-trial cohorts of multiple sclerosis
Copaxone is an efficacious and safe therapy that has demonstrated clinical benefit for over two decades in patients with relapsing forms of multiple sclerosis (MS). On an individual level, patients show variab...
-
Article
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Andrea Superti-Furga, Ron Wevers, Clara van Karnebeek, Luisa Bonafé and colleagues identify mutations in NANS, which encodes the sialic acid synthase, in nine individuals with severe infantile-onset developmental...
-
Article
Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities
We describe a family with QARS deficiency due to compound heterozygous QARS mutations, including c.1387G > A (p.R463*) in the catalytic core domain and c.2226C > G (p.Q742H) in the anticodon domain, both previous...
-
Article
Open AccessDefects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms
Fatty acid amide hydrolase 2 (FAAH2) is a hydrolase that mediates the degradation of endocannabinoids in man. Alterations in the endocannabinoid system are associated with a wide variety of neurologic and psyc...
-
Article
Open AccessThe genotypic and phenotypic spectrum of PIGA deficiency
Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the enzymes involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor proteins, which function as enzymes, adhesion mol...
-
Article
Open AccessSingle point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking
We report a 6.5 year-old female with a homozygous missense mutation in ZFYVE20, encoding Rabenosyn-5 (Rbsn-5), a highly conserved multi-domain protein implicated in receptor-mediated endocytosis. The clinical pre...
-
Article
Open AccessExome sequencing pilot study in children with carbamazepine-induced serious skin reactions
