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Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)最新文献

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Repetitive and Stereotyped Behaviors in Neurodevelopmental Disorders: More than a Movement Disorder 神经发育障碍中的重复和刻板行为:不仅仅是一种运动障碍
Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique) Pub Date : 2022-03-01 DOI: 10.1055/s-0042-1746211
S. Brunetti, A. Rossi, J. Galli, F. Gitti, N. Nardocci, L. Giordano, P. Accorsi, S. Calza, E. Fazzi
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引用次数: 0
A Novel X-linked Mutation of CACNA1F Gene in Two Male Siblings Presenting Nystagmus 一种新的CACNA1F基因x连锁突变在两个患有眼球震颤的男性兄弟姐妹中
Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique) Pub Date : 2022-03-01 DOI: 10.1055/s-0042-1746217
B. Bellini, J. Galli, C. Izzi, M. Iascone, A. Molinaro, L. Pinelli, G. Savoldi, I. Tesic, E. Fazzi
{"title":"A Novel X-linked Mutation of CACNA1F Gene in Two Male Siblings Presenting Nystagmus","authors":"B. Bellini, J. Galli, C. Izzi, M. Iascone, A. Molinaro, L. Pinelli, G. Savoldi, I. Tesic, E. Fazzi","doi":"10.1055/s-0042-1746217","DOIUrl":"https://doi.org/10.1055/s-0042-1746217","url":null,"abstract":"","PeriodicalId":312917,"journal":{"name":"Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122844359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Developmental Profile of an Italian Cohort of ELBW Preterm Infants Born in the 2000s: Is Emerging Language a Weak Point in Early Development? 意大利2000年出生的ELBW早产儿的发展概况:新兴语言是早期发展的弱点吗?
Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique) Pub Date : 2022-03-01 DOI: 10.1055/s-0042-1746212
C. Caporali, C. Naboni, G. Tritto, C. Pisoni, F. Manzoni, S. Longo, G. Perotti, C. Tzialla, M. Stronati, S. Orcesi
{"title":"Developmental Profile of an Italian Cohort of ELBW Preterm Infants Born in the 2000s: Is Emerging Language a Weak Point in Early Development?","authors":"C. Caporali, C. Naboni, G. Tritto, C. Pisoni, F. Manzoni, S. Longo, G. Perotti, C. Tzialla, M. Stronati, S. Orcesi","doi":"10.1055/s-0042-1746212","DOIUrl":"https://doi.org/10.1055/s-0042-1746212","url":null,"abstract":"","PeriodicalId":312917,"journal":{"name":"Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)","volume":"92 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134570402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Epileptology of Aicardi–Goutières Syndrome: Electroclinical Phenotype and Clinical–Radiological Correlation aicardii - gouti<e:1>综合征的癫痫学:电临床表型和临床放射学相关性
Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique) Pub Date : 2022-03-01 DOI: 10.1055/s-0042-1746208
C. Varesio, V. De Giorgis, M. Viri, L. Giordano, R. La Piana, D. Tonduti, F. Roncarolo, P. Veggiotti, E. Fazzi, S. Orcesi
{"title":"The Epileptology of Aicardi–Goutières Syndrome: Electroclinical Phenotype and Clinical–Radiological Correlation","authors":"C. Varesio, V. De Giorgis, M. Viri, L. Giordano, R. La Piana, D. Tonduti, F. Roncarolo, P. Veggiotti, E. Fazzi, S. Orcesi","doi":"10.1055/s-0042-1746208","DOIUrl":"https://doi.org/10.1055/s-0042-1746208","url":null,"abstract":"","PeriodicalId":312917,"journal":{"name":"Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117145213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Neonatal Presentation of BRAT1-Related Neonatal Rigidity and Multifocal Seizure Syndrome 与brat1相关的新生儿僵硬和多灶性癫痫综合征的新生儿表现
Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique) Pub Date : 2022-03-01 DOI: 10.1055/s-0042-1746209
L. Vega, D. Lederer, C. Hocq, B. van Grambezen, V. Benoit, S. Flas, O. Danhaive, M. Cilio
{"title":"The Neonatal Presentation of BRAT1-Related Neonatal Rigidity and Multifocal Seizure Syndrome","authors":"L. Vega, D. Lederer, C. Hocq, B. van Grambezen, V. Benoit, S. Flas, O. Danhaive, M. Cilio","doi":"10.1055/s-0042-1746209","DOIUrl":"https://doi.org/10.1055/s-0042-1746209","url":null,"abstract":"","PeriodicalId":312917,"journal":{"name":"Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)","volume":"71 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126815330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Monogenic Chorea Etiologies in Children: A Study of a Cohort of 85 Patients and a Proposal of a Diagnostic Algorithm 儿童单基因舞蹈病病因学:85例患者队列研究和一种诊断算法的建议
Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique) Pub Date : 2022-03-01 DOI: 10.1055/s-0042-1746210
C. Ravelli, L. Burglen, A. Roubertie, S. C. Bastaraud, C. Mignot, D. Rodriguez, M. Louha, D. Doummar
{"title":"Monogenic Chorea Etiologies in Children: A Study of a Cohort of 85 Patients and a Proposal of a Diagnostic Algorithm","authors":"C. Ravelli, L. Burglen, A. Roubertie, S. C. Bastaraud, C. Mignot, D. Rodriguez, M. Louha, D. Doummar","doi":"10.1055/s-0042-1746210","DOIUrl":"https://doi.org/10.1055/s-0042-1746210","url":null,"abstract":"","PeriodicalId":312917,"journal":{"name":"Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114054954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurodevelopmental Disorder in Children Affected by Ocular Albinism Type 1 1型眼白化病患儿的神经发育障碍
Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique) Pub Date : 2022-03-01 DOI: 10.1055/s-0042-1746206
J. Galli, A. Rossi, A. Molinaro, A. Morandi, L. Pinelli, A. Franzoni, N. Pasini, E. Fazzi
{"title":"Neurodevelopmental Disorder in Children Affected by Ocular Albinism Type 1","authors":"J. Galli, A. Rossi, A. Molinaro, A. Morandi, L. Pinelli, A. Franzoni, N. Pasini, E. Fazzi","doi":"10.1055/s-0042-1746206","DOIUrl":"https://doi.org/10.1055/s-0042-1746206","url":null,"abstract":"","PeriodicalId":312917,"journal":{"name":"Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134339113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Case of Vitamin-B6-Dependent Disorder Presenting with Abnormal Eye–Head Movements and Infantile Spasms without Hypsarrhythmia 以眼-头运动异常和婴儿痉挛为表现的维生素b6依赖性障碍1例，无低心律失常
Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique) Pub Date : 2022-03-01 DOI: 10.1055/s-0042-1746216
J. Kalser, B. Plecko, F. Giuliano, B. Bölsterli
{"title":"A Case of Vitamin-B6-Dependent Disorder Presenting with Abnormal Eye–Head Movements and Infantile Spasms without Hypsarrhythmia","authors":"J. Kalser, B. Plecko, F. Giuliano, B. Bölsterli","doi":"10.1055/s-0042-1746216","DOIUrl":"https://doi.org/10.1055/s-0042-1746216","url":null,"abstract":"","PeriodicalId":312917,"journal":{"name":"Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129852665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Hearing Loss Is Not an Obligatory Hallmark of SPATA5 Early-Onset Epileptic Encephalopathy with Microcephaly and Hypomyelination 听力损失不是SPATA5早发性癫痫性脑病伴小头畸形和髓鞘硬化的强制性标志
Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique) Pub Date : 2022-03-01 DOI: 10.1055/s-0042-1746214
J. Fluss, I. Kern, S. Antonarakis, C. Borel, M. A. Rodrigues, E. Ranza
{"title":"Hearing Loss Is Not an Obligatory Hallmark of SPATA5 Early-Onset Epileptic Encephalopathy with Microcephaly and Hypomyelination","authors":"J. Fluss, I. Kern, S. Antonarakis, C. Borel, M. A. Rodrigues, E. Ranza","doi":"10.1055/s-0042-1746214","DOIUrl":"https://doi.org/10.1055/s-0042-1746214","url":null,"abstract":"","PeriodicalId":312917,"journal":{"name":"Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)","volume":"53 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"120924220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pharmacological Combination of Sodium Channel Blockers (Oxcarbazepine and Lacosamide) to Control Seizures in Two Patients with Neonatal-Onset Epilepsy due to De Novo SCNA2 Heterozygous Mutation 钠通道阻滞剂(奥卡西平和拉科沙胺)联合控制2例新生儿SCNA2杂合突变所致癫痫发作
Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique) Pub Date : 2022-03-01 DOI: 10.1055/s-0042-1746213
A. Borrás, V. Delgadillo, N. Juliá, V. González, J. Armstrong, D. Yubero, C. Fons
{"title":"Pharmacological Combination of Sodium Channel Blockers (Oxcarbazepine and Lacosamide) to Control Seizures in Two Patients with Neonatal-Onset Epilepsy due to De Novo SCNA2 Heterozygous Mutation","authors":"A. Borrás, V. Delgadillo, N. Juliá, V. González, J. Armstrong, D. Yubero, C. Fons","doi":"10.1055/s-0042-1746213","DOIUrl":"https://doi.org/10.1055/s-0042-1746213","url":null,"abstract":"","PeriodicalId":312917,"journal":{"name":"Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)","volume":"24 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126623174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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