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  • Frontiers Media SA  (7)
  • Li, Bin  (7)
  • 1
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    Table_1.doc
    Frontiers Media SA ; 2018
    In:  Frontiers in Immunology Vol. 9 ( 2018-8-3)
    Details
    In: Frontiers in Immunology, Frontiers Media SA, Vol. 9 ( 2018-8-3)
    Type of Medium: Online Resource
    ISSN: 1664-3224
    URL: Article
    URL: Article
    DOI: 10.3389/fimmu.2018.01775
    DOI: 10.3389/fimmu.2018.01775.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2018
    detail.hit.zdb_id: 2606827-8
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  • 2
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    PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation
    Frontiers Media SA ; 2022
    In:  Frontiers in Neurology Vol. 13 ( 2022-7-26)
    Details
    In: Frontiers in Neurology, Frontiers Media SA, Vol. 13 ( 2022-7-26)
    Abstract: PRRT2 is a major causative gene for self-limited familial neonatal-infantile epilepsy, paroxysmal kinesigenic dyskinesia, and paroxysmal kinesigenic dyskinesia with infantile convulsions. Voluntary movement trigger is prominent in adolescence and adulthood, but the triggers are unknown in infants. Methods A gene panel designed for targeted next-generation sequencing (NGS) was used to screen genetic abnormalities in a cohort of 45 cases with infantile convulsions. The copy number variation was detected by a computational method based on the normalized depth of coverage and validated by a quantitative real-time polymerase chain reaction (RT-qPCR) method. The genotype-phenotype correlation of the PRRT2 mutation gene was analyzed. Results A de novo heterozygous PRRT2 deletion was identified in a child who had infantile convulsions induced by vigorous sucking. Seizures happened during the change of feeding behavior from breast to formula, which led to hungry and vigorous sucking. Ictal electroencephalograms recorded seizures with focal origination, which provided direct evidence of epileptic seizures in infants with PRRT2 mutations. Seizures stopped soon after the feeding behavior was changed by reducing feeding interval time and extending feeding duration. Data reanalysis on our previously reported cases with PRRT2 mutations showed that six of 18 (33.3%) patients had infantile convulsions or infantile non-convulsion seizures during feeding. The mutations included two truncating mutations (c.579dupA/p.Glu194Argfs * 6, and c.649dupC/p.Arg217Profs * 8) that were identified in each of the three affected individuals. Conclusions This study suggests that feeding, especially vigorous sucking, is potentially a trigger and highlights the significance of feeding behavior in preventing seizures in infants with PRRT2 mutations. Identification of PRRT2 haploinsufficiency mutations in the patients with infantile convulsions induced by sucking suggested a potential genotype-phenotype correlation.
    Type of Medium: Online Resource
    ISSN: 1664-2295
    URL: Article
    DOI: 10.3389/fneur.2022.836048
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2564214-5
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  • 3
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    Table_2.DOC
    Frontiers Media SA ; 2020
    In:  Frontiers in Neuroscience Vol. 14 ( 2020-8-11)
    Details
    In: Frontiers in Neuroscience, Frontiers Media SA, Vol. 14 ( 2020-8-11)
    Type of Medium: Online Resource
    ISSN: 1662-453X
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.3389/fnins.2020.00821
    DOI: 10.3389/fnins.2020.00821.s001
    DOI: 10.3389/fnins.2020.00821.s002
    DOI: 10.3389/fnins.2020.00821.s003
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2020
    detail.hit.zdb_id: 2411902-7
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  • 4
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    Data_Sheet_1.pdf
    Frontiers Media SA ; 2021
    In:  Frontiers in Neuroscience Vol. 15 ( 2021-6-7)
    Details
    In: Frontiers in Neuroscience, Frontiers Media SA, Vol. 15 ( 2021-6-7)
    Abstract: Electroacupuncture (EA) is widely used in clinical practice to relieve migraine pain. 5-HT 7 receptor (5-HT 7 R) has been reported to play an excitatory role in neuronal systems and regulate hyperalgesic pain and neurogenic inflammation. 5-HT 7 R could influence phosphorylation of protein kinase A (PKA)- or extracellular signal-regulated kinase 1 / 2 (ERK 1 / 2 )-mediated signaling pathways, which mediate sensitization of nociceptive neurons via interacting with cyclic adenosine monophosphate (cAMP). In this study, we evaluated the role of 5-HT 7 R in the antihyperalgesic effects of EA and the underlying mechanism through regulation of PKA and ERK 1 / 2 in trigeminal ganglion (TG) and trigeminal nucleus caudalis (TNC). Hyperalgesia was induced in rats with dural injection of inflammatory soup (IS) to cause meningeal neurogenic inflammatory pain. Electroacupuncture was applied for 15 min every other day before IS injection. Von Frey filaments, tail-flick, hot-plate, and cold-plated tests were used to evaluate the mechanical and thermal hyperalgesia. Neuronal hyperexcitability in TNC was studied by an electrophysiological technique. The 5-HT 7 R antagonist (SB269970) or 5-HT 7 R agonist (AS19) was administered intrathecally before each IS application at 2-day intervals during the 7-day injection protocol. The changes in 5-HT 7 R and 5-HT 7 R-associated signaling pathway were examined by real-time polymerase chain reaction (RT-PCR), Western blot, immunofluorescence, and enzyme-linked immunosorbent assay (ELISA) analyses. When compared with IS group, mechanical and thermal pain thresholds of the IS + EA group were significantly increased. Furthermore, EA prevented the enhancement of both spontaneous activity and evoked responses of second-order trigeminovascular neurons in TNC. Remarkable decreases in 5-HT 7 R mRNA expression and protein levels were detected in the IS + EA group. More importantly, 5-HT 7 R agonist AS19 impaired the antihyperalgesic effects of EA on p-PKA and p-ERK 1 / 2 . Injecting 5-HT 7 R antagonist SB-269970 into the intrathecal space of IS rats mimicked the effects of EA antihyperalgesia and inhibited p-PKA and p-ERK 1 / 2 . Our findings indicate that 5-HT 7 R mediates the antihyperalgesic effects of EA on IS-induced migraine pain by regulating PKA and ERK 1 / 2 in TG and TNC.
    Type of Medium: Online Resource
    ISSN: 1662-453X
    URL: Article
    URL: Article
    DOI: 10.3389/fnins.2021.668616
    DOI: 10.3389/fnins.2021.668616.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
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  • 5
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    Data_Sheet_2.PDF
    Frontiers Media SA ; 2022
    In:  Frontiers in Neuroscience Vol. 16 ( 2022-8-26)
    Details
    In: Frontiers in Neuroscience, Frontiers Media SA, Vol. 16 ( 2022-8-26)
    Abstract: The aim of this study was to evaluate the efficacy of acupuncture, an alternative medicine therapy, as a preventive treatment for menstruation-related migraine (MRM). Patients and methods This was a prospective, multicenter, double-dummy, participant-blinded, randomized controlled clinical trial conducted in China between 1 April 2013, and 30 April 2014. The participants were enrolled from four study centers and randomized to into either the acupuncture group, which received 24 sessions of acupuncture at traditional acupoints plus placebo, or the medication group, which received sham acupuncture plus naproxen. The primary endpoint was change from the baseline average number of migraine days per perimenstrual period over cycles 1−3. The secondary endpoints included changes from the baseline average number of migraine days outside the perimenstrual period, mean number of migraine hours during and outside the perimenstrual period, mean visual analog scale score during and outside the perimenstrual period, ≥50% migraine responder rate, and the proportion of participants who used acute pain medication over cycles 1−3 and 4−6. Results A total of 172 women with MRM were enrolled; 170 in the intention-to-treat analyses. Our primary outcome reported a significant between-group difference that favored the acupuncture group (95% CI, 0.17–0.50; P & lt; 0.001), with the average reduction of migraine days per perimenstrual period from the baseline was 0.94 (95% CI, 0.82–1.07) in the acupuncture group and 0.61 (95% CI, 0.50–0.71) in the medication group over cycles 1−3. Conclusion This study showed that compared to medication, acupuncture reduces the number of migraine days experienced by patients with MRM. For patients who received the acupuncture treatment over three cycles, the preventive effect of the therapy was sustained for six cycles. Clinical trial registration [ https://www.isrctn.com/ISRCTN57133712 ], identifier [ISRCTN15663606] .
    Type of Medium: Online Resource
    ISSN: 1662-453X
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.3389/fnins.2022.992577
    DOI: 10.3389/fnins.2022.992577.s001
    DOI: 10.3389/fnins.2022.992577.s002
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2411902-7
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  • 6
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    Table_1.DOCX
    Frontiers Media SA ; 2022
    In:  Frontiers in Molecular Neuroscience Vol. 15 ( 2022-5-4)
    Details
    In: Frontiers in Molecular Neuroscience, Frontiers Media SA, Vol. 15 ( 2022-5-4)
    Abstract: Previously, mutations in the voltage-gated calcium channel subunit alpha1 A ( CACNA1A ) gene have been reported to be associated with paroxysmal disorders, typically as episodic ataxia type 2. To determine the relationship between CACNA1A and epilepsies and the role of molecular sub-regional on the phenotypic heterogeneity. Methods Trio-based whole-exome sequencing was performed in 318 cases with partial epilepsy and 150 cases with generalized epilepsy. We then reviewed all previously reported CACNA1A mutations and analyzed the genotype-phenotype correlations with molecular sub-regional implications. Results We identified 12 CACNA1A mutations in ten unrelated cases of epilepsy, including four de novo null mutations (c.2963_2964insG/p.Gly989Argfs*78, c.3089 + 1G & gt; A, c.4755 + 1G & gt; T, and c.6340-1G & gt; A), four de novo missense mutations (c.203G & gt; T/p.Arg68Leu, c.3965G & gt; A/p.Gly1322Glu, c.5032C & gt; T/p.Arg1678Cys, and c.5393C & gt; T/p.Ser1798Leu), and two pairs of compound heterozygous missense mutations (c.4891A & gt; G/p.Ile1631Val & amp; c.5978C & gt; T/p.Pro1993Leu and c.3233C & gt; T/p.Ser1078Leu & amp;c.6061G & gt; A/p.Glu2021Lys). The eight de novo mutations were evaluated as pathogenic or likely pathogenic mutations according to the criteria of American College of Medical Genetics and Genomics (ACMG). The frequencies of the compound heterozygous CACNA1A mutations identified in this cohort were significantly higher than that in the controls of East Asian and all populations ( P = 7.30 × 10 –4 , P = 2.53 × 10 –4 ). All of the ten cases were ultimately seizure-free after antiepileptic treatment, although frequent epileptic seizures were observed in four cases. Further analysis revealed that episodic ataxia type 2 (EA2) had a tendency of higher frequency of null mutations than epilepsies. The missense mutations in severe epileptic phenotypes were more frequently located in the pore region than those in milder epileptic phenotypes ( P = 1.67 × 10 –4 ); de novo mutations in the epilepsy with intellectual disability (ID) had a higher percentage than those in the epilepsy without ID ( P = 1.92 × 10 –3 ). Conclusion This study suggested that CACNA1A mutations were potentially associated with pure epilepsy and the spectrum of epileptic phenotypes potentially ranged from the mild form of epilepsies such as absence epilepsy or partial epilepsy, to the severe form of developmental epileptic encephalopathy. The clinical phenotypes variability is potentially associated with the molecular sub-regional of the mutations.
    Type of Medium: Online Resource
    ISSN: 1662-5099
    URL: Article
    URL: Article
    DOI: 10.3389/fnmol.2022.860662
    DOI: 10.3389/fnmol.2022.860662.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2452967-9
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  • 7
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    RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia
    Frontiers Media SA ; 2021
    In:  Frontiers in Neuroscience Vol. 15 ( 2021-4-7)
    Details
    In: Frontiers in Neuroscience, Frontiers Media SA, Vol. 15 ( 2021-4-7)
    Abstract: RYR2 encodes ryanodine receptor 2 protein (RYR-2) that is mainly located on endoplasmic reticulum membrane and regulates intracellular calcium concentration. The RYR-2 protein is ubiquitously distributed and highly expressed in the heart and brain. Previous studies have identified the RYR2 mutations in the etiology of arrhythmogenic right ventricular dysplasia 2 and catecholaminergic polymorphic ventricular tachycardia. However, the relationship between RYR2 gene and epilepsy is not determined. In this study, we screened for novel genetic variants in a group of 292 cases (families) with benign epilepsy of childhood with centrotemporal spikes (BECTS) by trio-based whole-exome sequencing. RYR2 mutations were identified in five cases with BECTS, including one heterozygous frameshift mutation (c.14361dup/p.Arg4790Pro fs ∗ 6), two heterozygous missense mutations (c.2353G & gt; A/p.Asp785Asn and c.8574G & gt; A/p.Met2858Ile), and two pairs of compound heterozygous mutations (c.4652A & gt; G/p.Asn1551Ser and c.11693T & gt; C/p.Ile3898Thr, c.7469T & gt; C/p.Val2490Ala and c.12770G & gt; A/p.Arg4257Gln, respectively). Asp785Asn was a de novo missense mutation. All the missense mutations were suggested to be damaging by at least three web-based prediction tools. These mutations do not present or at low minor allele frequency in gnomAD database and present statistically higher frequency in the cohort of BECTS than in the control populations of gnomAD. Asp785Asn, Asn1551Ser, and Ile3898Thr were predicted to affect hydrogen bonds with surrounding amino acids. Three affected individuals had arrhythmia (sinus arrhythmia and occasional atrial premature). The two probands with compound heterozygous missense mutations presented mild cardiac structural abnormalities. Strong evidence from ClinGen Clinical Validity Framework suggested an association between RYR2 variants and epilepsy. This study suggests that RYR2 gene is potentially a candidate pathogenic gene of BECTS. More attention should be paid to epilepsy patients with RYR2 mutations, which were associated with arrhythmia and sudden unexpected death in previous reports.
    Type of Medium: Online Resource
    ISSN: 1662-453X
    URL: Article
    DOI: 10.3389/fnins.2021.629610
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
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