Variable ventilation ages in the equatorial Indian Ocean thermocline during the LGM.

Variations of atmospheric CO during the Pleistocene ice-ages have been associated with changes in the drawdown of carbon into the deep-sea. Modelling studies suggest that about one third of the glacial carbon drawdown may not be associated to the deep ocean, but to the thermocline or intermediate ocean. However, the carbon storage capacity of thermocline waters is still poorly constrained.

Weakening of the South Asian summer monsoon linked to interhemispheric ice-sheet growth since 12 Ma.

The evolution and driving mechanism of the South Asian summer monsoon (SASM) are still poorly understood. We here present a 12-Myr long SASM record by analyzing the strontium and neodymium isotopic composition of detrital components at IODP Exp. 359 Site U1467 from the northern Indian Ocean.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with the aim of describing clinical phenotypes related to functional effects. Six different clinical subgroups were identified: Group 1, benign familial infantile epilepsy (n = 15, normal cognition, treatable seizures); Group 2, intermediate epilepsy (n = 33, mild intellectual disability, partially pharmaco-responsive); Group 3, developmental and epileptic encephalopathy (n = 177, severe intellectual disability, majority pharmaco-resistant); Group 4, generalized epilepsy (n = 20, mild to moderate intellectual disability, frequently with absence seizures); Group 5, unclassifiable epilepsy (n = 127); and Group 6, neurodevelopmental disorder without epilepsy (n = 20, mild to moderate intellectual disability).

Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.

Nicolaides-Baraitser syndrome (NCBRS), caused by a mutation in the gene, which goes along with intellectual disability, congenital malformations, especially of face and limbs, and often difficult-to-treat epilepsy, is surveyed focusing on epilepsy and its treatment. Patients were recruited via "Network Therapy of Rare Epilepsies (NETRE)" and an international NCBRS parent support group. Inclusion criterion is NCBRS-defining SMARCA2 mutation.