Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by capillary malformation (port-wine stains), and choroidal and leptomeningeal vascular malformations. Previously, the recurrent somatic mutation c.548G>A (p.R183Q) in the G-α q gene (GNAQ) was identified as causative in SWS and non-syndromic port-wine stain patients using whole-genome sequencing. In this study, we investigated somatic mutations in GNAQ by next-generation sequencing. We first performed targeted amplicon sequencing of 15 blood-brain-paired samples in sporadic SWS and identified the recurrent somatic c.548G>A mutation in 80% of patients (12 of 15). The percentage of mutant alleles in brain tissues of these 12 patients ranged from 3.6 to 8.9%. We found no other somatic mutations in any of the seven GNAQ exons in the remaining three patients without c.548G>A. These findings suggest that the recurrent somatic GNAQ mutation c.548G>A is the major determinant genetic factor for SWS and imply that other mutated candidate gene(s) may exist in SWS.

In ES+, the larger number of high-rate FR electrodes indicates more widespread epileptogenicity than in ES-. High values of OR and MI in ES+ compared to ES- are a signature of the severity of epileptogenicity. We proved that ES+ children who achieved seizure freedom following multilobar resections exhibited strong coupling between slow oscillations and FRs.

Relative humidity induces the reversible crystal transition of guanosine between the dihydrate and the anhydrous state. The characteristics of the transition was investigated by means of X-ray powder diffraction analysis and high-resolution solid-state 13C NMR spectroscopy. Adsorption-desorption hysteresis was observed. Guanosine dihydrate (the H-state) which is crystallized from an aqueous solution rapidly loses crystal water below 10% relative humidity (rh), and is anhydrous at 0% rh (the A-state). The crystals gradually recover the H-state at approximate 20% rh. In the adsorption process between 10-20% rh, there exists one intermediate state, M, with 1.2-1.3 moles water per mole guanosine. The lattice of the M-state was determined to be orthorhombic with the cell parameters of a = 16.248(1), b = 11.603(1), and c = 13.643(2) A. The base-stacking structure is retained throughout the transition. On the other hand, conformational changes of the riboses and break of the hydrogen-bonding network between the bases would be induced in the A-state in conformity with lack of crystal water.

The photochemical reactions of nitrocobalt(III) tetraphenylporphyrin, (NO 2 )Co III TPP, and its six-coordinated complex with 4-(dimethylamino)pyridine, (NO 2 )Co III TPP(DMAPy), in benzene were studied by using a laser flash technique. The structures solved by X-ray analysis show that both compounds are the nitro form (O 2 N-Co III ) instead of the nitrito form (ONO-Co III ). The transient absorption spectrum observed 50 ns after laser excitation of (NO 2 )Co III TPP(DMAPy) in benzene revealed that the pyridinate complex undergoes photodissociation of the N-Co III bond to yield NO 2 and Co II TPP(DMAPy). These products recombine and regenerate the original complex with a second-order rate constant of 2.5 × 10 9 dm 3 mol -1 s -1 . In the case of (NO 2 )Co III -TPP, the transient absorption spectrum detected 50 ns after the laser flash changes to another spectrum which has a longer lifetime and decays according to first-order kinetics with the rate constant of 3.0 × 10 2 s -1 . The former spectrum corresponds to formation of Co II TPP from the photodissociation of the N-Co III bond. The change from the former to latter spectrum is found to follow second-order kinetics with the rate constant of 3.6 × 10 9 dm 3 mol -1 s -1 . On the basis of the results obtained, it was concluded that the metastable transient giving the latter spectrum is the nitrito species, (ONO)Co III TPP, which undergoes a nitrito f nitro linkage isomerization.

SUMMARYObjective: Some patients with Sturge-Weber syndrome (SWS) need epilepsy surgery for adequate seizure control and prevention of psychomotor deterioration. The majority of patients with SWS have leptomeningeal angioma located over the temporal, parietal, and occipital lobes. We applied posterior quadrant disconnection surgery for this type of SWS with intractable seizure. We evaluated the efficacy of this procedure in seizure control and psychomotor development. Methods: Ten patients who were surgically treated using the posterior quadrantectomy (PQT) were enrolled in this study. Surgical outcome was analyzed as seizure-free or not at 2 years after surgery. Psychomotor development was evaluated by the scores of mental developmental index (MDI) and psychomotor developmental index (PDI) in the Bayley Scales of Infant Development II preoperatively, and at 6 and 12 months after the PQT. Results: Eight of 10 patients were seizure-free. Patients without complete elimination of the angiomatous areas had residual seizures. Average MDI and PDI scores before the surgery were 64.8 and 71.6, respectively. Scores of MDI at 6 and 12 months after the PQT in seizure-free patients were 80.5 and 84.5, respectively (p < 0.01). PDI scores at these postoperative intervals were 87.3 and 86.4, respectively (p < 0.05). Patients with residual seizures did not improve in either MDI or PDI. Significance: The PQT achieved good seizure control and improved psychomotor development in patients with SWS. The complete deafferentation of angiomatous areas is required for seizure-free results and psychomotor developmental improvement.