[Analysis of clinical phenotype and SCN1A gene variant in a pedigree affected with genetic epilepsy with febrile seizures].

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with genetic epilepsy with febrile seizures plus (GEFS+). METHODS: Clinical data of the proband and his family members were collected. Following extraction of genomic DNA, the proband was subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the proband and other family members. RESULTS: The pedigree, including 6 patients with febrile seizures from 3 generations, was diagnosed with typical GEFS+. Among them, 2 had febrile seizures (FS), 1 had febrile seizures plus (FS+), and 3 had febrile seizures with focal seizures. High-throughput sequencing revealed that the proband has carried a heterozygous missense variant of c.4522T>A (p.Tyr1508Asn) of the SCN1A gene. Sanger sequencing confirmed that other five patients and one normal member from the pedigree have also carried the same variant, which yielded a penetrance of 85.7%. CONCLUSION: The c.4522T>A (p.Tyr1508Asn) of the SCN1A gene probably underlay the disease in this pedigree. The pattern of inheritance was consistent with autosomal dominant inheritance with incomplete penetrance. Above finding has enriched the variant spectrum of the SCN1A gene.

[Intermittent convulsions for 1.5 years and psychomotor retardation in a girl].

The study reports a girl with pyridoxine-dependent epilepsy. The girl was admitted at the age of 2 years because of intermittent convulsions for 1.5 years and psychomotor retardation. She had a history of "hypoxia" in the neonatal period. At the age of 5 months recurrent epileptic seizures occurred. The child was resistant to antiepileptic drugs, and had many more seizures when she got cold or fever. She also had a lot of convulsive status epilepticus. No discharges were found during several video-EEG monitorings. Cerebral MRI examinations showed normal results. So Dravet syndrome was clinically suspected. ALDH7N1 gene mutation analysis revealed two heterozygote mutations, and pyridoxine-dependent epilepsy was thus confirmed. Seizures were generally controlled after pyridoxine supplementation.

Compact waveguide splitter networks.

We demonstrate compact waveguide splitter networks in siliconon- insulator (SOI) rib waveguides using trench-based splitters (TBSs) and bends (TBBs). Rather than a 90 degrees geometry, we use 105 degrees TBSs to facilitate reliable fabrication of high aspect ratio trenches suitable for 50/50 splitting when filled with SU8. Three dimensional (3D) finite difference time domain (FDTD) simulation is used for splitter and bend design. Measured TBB and TBS optical efficiencies are 84% and 68%, respectively. Compact 105 degrees 1 x 4, 1 x 8, and 1 x 32 trench-based splitter networks (TBSNs) are demonstrated. The measured total optical loss of the 1 x 32 TBSN is 9.15 dB. Its size is only 700 microm x 1600 microm for an output waveguide spacing of 50 microm.

Optical behaviors of conjugated-chain compounds containing benzene and furan units.

Thirteen conjugated-chain compounds which contain benzene and furan units were prepared, their optical behaviors, including UV-vis absorption coefficient (epsilon), absorption wavelengths (lambdaa), fluorescence emission wavelengths (lambdae), and quantum yields (Phi) were measured. Meanwhile, their LUMO and HOMO energy were determined by cyclic voltammetry and their second-order polarizations (betaxxx) values were determined by solvatochromic method, respectively. The results showed that this kind of compounds possess a shorter lambdaa (320-365 nm) and performance a higher Phi values, especially for 2aa, 2ab, 2ac and 2bb, their Phi values are all more than 90%. These compounds, except 2db, showed a higher betaxxx values in DMSO, especially for 2dc (75.77x10(-30) m5 C-1) and 2dd (83.32x10(-30) m5 C-1), than that 10-methyl-acridone (6.578x10(-30) m5 C-1) or 10-benzylacridone (6.845x10(-30) m5 C-1) in DMSO did, and second harmonic generation value of 10-methylacridone and 10-benzylacridone in powder are, respectively, 1.381 and 1.861 times of that value of urea. The betaxxx values and Phi values determined for these compounds in this work were lower than these values which were desired in the original work, this phenomena was explained from their molecular structures. This work confirmed that as these compounds performance shorter lambdaa and higher Phi values, they could be good blue-color optical materials for some fields, such as OLED materials, two-photo absorption materials, fluorescent dyes.

Compact 90 degrees trench-based splitter for silicon-on-insulator rib waveguides.

Compact silicon-on-insulator (SOI) rib waveguide 90 degrees splitters based on narrow, high-aspect ratio (~10:1) trenches are designed and experimentally demonstrated. The splitter area is only 11 mum x 11 mum. Splitter optical performance is investigated as a function of both trench width and refractive index of the trench fill material. We examine three trench fill materials, air (n=1.0), SU8 (n=1.57), and index matching fluid (n=1.733), and find good agreement between experimental measurement and three dimensional (3D) finite difference time domain (FDTD) simulation. A splitting ratio of 49/51 (reflection/transmission) is measured for an index fluid-filled trench 82nm wide.

Compact and low loss silicon-on-insulator rib waveguide 90 degrees bend.

A compact and low loss silicon-on-insulator rib waveguide 90 degrees bend is designed and demonstrated. An interface realized by a trench filled with SU8 at the corner of a waveguide bend effectively reflects incoming light through total internal reflection (TIR). In order to accurately position the SU8-filled trench relative to the waveguide and reduce sidewall roughness of the interface, electron beam lithography (EBL) is employed while inductively coupled plasma reactive ion etching (ICP RIE) is used to achieve a vertical sidewall. The measured loss for TE polarization is 0.32 dB +/- 0.02 dB/bend at a wavelength of 1.55 microm.