Analysis of shared heritability in common disorders of the brain
It is demonstrated that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine, and it is shown that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy, and suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function.
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
This work has identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function that alters phosphate export, implicating X PR1 and phosphate homeostasis in PFBC.
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
The high prevalence of mutations causing protein truncations confirms that loss of function is the major cause of the disorder.
Characterization of a recurrent 15q24 microdeletion syndrome.
Multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 are described, indicating that this represents a novel syndrome caused by haploinsufficiency of one or more dosage-sensitive genes in the minimal deletion region.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
The results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.
Posterior reversible encephalopathy syndrome in intensive care medicine
Intensivists and other physicians involved in the evaluation of patients with presumed PRES must be aware of the clinical spectrum of the associated conditions, the diagnostic modalities, and the correct treatment.
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
Exome sequencing for parent-offspring trios with fever-sensitive, intractable epileptic encephalopathy led to the discovery of two de novo missense HCN1 mutations, providing clear evidence that de noVOHCN1 point mutations cause a recognizable early-onset epilepticEncephalopathy in humans.
De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy with little correlation among seizure onset, seizure severity, and the degree of ID, and it is hypothesize that seizure severity and ID present 2 independent dimensions of the STX BP1-E phenotype.