keyword
https://read.qxmd.com/read/38168178/aav-mediated-interneuron-specific-gene-replacement-for-dravet-syndrome
#21
John K Mich, Jiyun Ryu, Aguan D Wei, Bryan B Gore, Rong Guo, Angela M Bard, Refugio A Martinez, Yemeserach Bishaw, Em Luber, Luiz M Oliveira Santos, Nicole Miranda, Jan-Marino Ramirez, Jonathan T Ting, Ed S Lein, Boaz P Levi, Franck K Kalume
Dravet syndrome (DS) is a devastating developmental epileptic encephalopathy marked by treatment-resistant seizures, developmental delay, intellectual disability, motor deficits, and a 10-20% rate of premature death. Most DS patients harbor loss-of-function mutations in one copy of SCN1A , which has been associated with inhibitory neuron dysfunction. Here we developed an interneuron-targeting AAV human SCN1A gene replacement therapy using cell class-specific enhancers. We generated a split-intein fusion form of SCN1A to circumvent AAV packaging limitations and deliver SCN1A via a dual vector approach using cell class-specific enhancers...
December 15, 2023: bioRxiv
https://read.qxmd.com/read/38167335/switching-from-zonisamide-to-perampanel-improved-the-frequency-of-seizures-caused-by-hyperthermia-in-dravet-syndrome-a-case-report
#22
JOURNAL ARTICLE
Kazuhiro Horiuchi, Akihiko Kudo, Shuntaro Nakamura, Kazuki Yamada, Takashi Inoue, Shintaro Fujii, Yuki Oshima
BACKGROUND: Dravet syndrome is a severe epilepsy disorder characterized by drug-resistant seizures and cognitive dysfunction, often caused by SCN1A gene mutations. It leads to neurodevelopmental delays and motor, behavioral, and cognitive impairments, with a high mortality rate. Treatment options include sodium valproate, clobazam, and newer agents such as cannabidiol and fenfluramine. Zonisamide, which is used in some cases, can cause hyperthermia and oligohydrosis. Herein, we present a case of a patient with Dravet syndrome whose seizures were controlled by treating infections and switching from zonisamide to perampanel...
January 3, 2024: Journal of Medical Case Reports
https://read.qxmd.com/read/38129960/leveraging-multiple-approaches-for-detection-of-pathogenic-deep-intronic-variants-in-developmental-and-epileptic-encephalopathies-a-case-report
#23
JOURNAL ARTICLE
Denis M Nyaga, Michael S Hildebrand, Guillem de Valles-Ibáñez, Ngaire F Keenan, Zimeng Ye, Christy W LaFlamme, Heather C Mefford, Mark F Bennett, Melanie Bahlo, Lynette G Sadleir
50% of individuals with developmental and epileptic encephalopathies (DEEs) are unsolved following genetic testing. Deep intronic variants, defined as >100 bp from exon-intron junctions, contribute to disease by affecting the splicing of mRNAs in clinically relevant genes. Identifying deep intronic pathogenic variants is challenging and resource intensive, and interpretation is difficult due to limited functional annotations. We aimed to identify deep intronic variants in individuals suspected to have unsolved single gene DEEs...
December 21, 2023: Epilepsia Open
https://read.qxmd.com/read/38125836/prospective-evaluation-of-ngs-based-sequencing-in-epilepsy-patients-results-of-seven-nasge-associated-diagnostic-laboratories
#24
JOURNAL ARTICLE
Maximilian G W Witzel, Christian Gebhard, Sören Wenzel, Saskia Kleier, Birgit Eichhorn, Peter Lorenz, Laura von der Heyden, Marius Kuhn, Manuel Luedeke, Miriam Döcker, Jerome Jüngling, Björn Schulte, Konstanze Hörtnagel, Ralf Glaubitz, Sarah Knippenberger, Anna Teubert, Angela Abicht, Teresa M Neuhann
BACKGROUND: Epilepsy is one of the most common and disabling neurological disorders. It is highly prevalent in children with neurodevelopmental delay and syndromic diseases. However, epilepsy can also be the only disease-determining symptom. The exact molecular diagnosis is essential to determine prognosis, comorbidity, and probability of recurrence, and to inform therapeutic decisions. METHODS AND MATERIALS: Here, we describe a prospective cohort study of patients with epilepsy evaluated in seven diagnostic outpatient centers in Germany...
2023: Frontiers in Neurology
https://read.qxmd.com/read/38116874/epileptogenic-focal-lesions-in-dravet-syndrome-a-warning-to-investigators
#25
JOURNAL ARTICLE
Rita Ventura, Álvaro Beltrán-Corbellini, Rafael Toledano, Irene Sánchez-Miranda Román, Irene García-Morales, Antonio Gil-Nagel
OBJECTIVE: Most patients with Dravet syndrome (DS) have unremarkable neuroimaging studies. However, a small number of patients exhibit focal abnormalities that may modify the epilepsy phenotype. We report a case series of DS patients carrying SCN1A variants concurrent with additional focal brain lesions, aiming to provide details regarding their clinical course, electrographic findings, and imaging features. METHODS: We reviewed the electronic medical records of patients with developmental and epileptic encephalopathies in our center, from January 2000 to December 2022, identifying 90 patients with DS resulting from SCN1A variants...
December 20, 2023: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/38110787/generation-of-ipsc-lines-kaimrci003a-kaimrci003b-from-a-saudi-patient-with-dravet-syndrome-carrying-homozygous-mutation-in-the-cplx1-gene-and-heterozygous-mutation-in-scn9a
#26
JOURNAL ARTICLE
Maryam Alowaysi, Mohammad Al-Shehri, Amani Badkok, Hanouf Attas, Doaa Aboalola, Moayad Baadhaim, Hajar Alzahrani, Mustafa Daghestani, Asima Zia, Khalid Al-Ghamdi, Asayil Al-Ghamdi, Samer Zakri, Sihem Aouabdi, Jesper Tegner, Khaled Alsayegh
The most prevalent form of epileptic encephalopathy is Dravet syndrome (DRVT), which is triggered by the pathogenic variant SCN1A in 80% of cases. iPSCs with different SCN1A mutations have been constructed by several groups to model DRVT syndrome. However, no studies involving DRVT-iPSCs with rare genetic variants have been conducted. Here, we established two DRVT-iPSC lines harboring a homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A gene. Therefore, the derivation of these iPSC lines provides a unique cellular platform to dissect the molecular mechanisms underlying the cellular dysfunctions consequent to CPLX1 and SCN9A mutations...
December 19, 2023: Human Cell
https://read.qxmd.com/read/38101940/the-role-of-copy-number-variants-in-the-genetic-architecture-of-common-familial-epilepsies
#27
JOURNAL ARTICLE
(no author information available yet)
OBJECTIVE: Copy number variants (CNVs) contribute to genetic risk and genetic etiology of both rare and common epilepsies. While many studies have explored the role of CNVs in sporadic or severe cases, fewer have been done in familial generalized and focal epilepsies. METHODS: We analyzed exome sequence data from 267 multiplex families and 859 first-degree relative pairs with a diagnosis of genetic generalized epilepsies (GGE) or non-acquired focal epilepsies (NAFE) to predict CNVs...
December 15, 2023: Epilepsia
https://read.qxmd.com/read/38099567/reply-spatial-and-temporal-manipulation-of-the-scn1a-gene-affects-adult-brain-function
#28
JOURNAL ARTICLE
Claudia Di Berardino, Martina Mainardi, Simone Brusco, Elena Benvenuto, Vania Broccoli, Gaia Colasante
No abstract text is available yet for this article.
December 14, 2023: Brain
https://read.qxmd.com/read/38095725/spatial-and-temporal-manipulation-of-the-scn1a-gene-affects-adult-brain-function
#29
JOURNAL ARTICLE
Nico A Jansen, Arn M J M van den Maagdenberg
No abstract text is available yet for this article.
December 14, 2023: Brain
https://read.qxmd.com/read/38081334/targeted-sequencing-identifies-risk-variants-in-202-candidate-genes-for-neurodevelopmental-disorders
#30
JOURNAL ARTICLE
Nan Pang, Kuokuo Li, Senwei Tan, Meilin Chen, Fang He, Chen Chen, Lifen Yang, Ciliu Zhang, Xiaolu Deng, Li Yang, Leilei Mao, Guoli Wang, Haolin Duan, Xiaole Wang, Wen Zhang, Hui Guo, Jing Peng, Fei Yin, Kun Xia
With the continuous deepening of genetic research on neurodevelopmental disorders (NDDs), more patients have been identified the causal or candidate genes. However, it is still urgent needed to increase the sample size to confirm the associations between variants and clinical manifestations. We previously performed molecular inversion probe sequencing of autism spectrum disorder (ASD) candidate genes in 1,543 ASD patients. In this study, we used the same method to detect de novo variants (DNVs) in 665 NDD patients with intellectual disability (ID) and/or epilepsy (EP) for genetic analysis and diagnosis...
December 9, 2023: Gene
https://read.qxmd.com/read/38073125/common-genes-and-recurrent-causative-variants-in-957-asian-patients-with-pediatric-epilepsy
#31
JOURNAL ARTICLE
Se Hee Kim, Jieun Seo, Soon Sung Kwon, Lip-Yuen Teng, DongJu Won, Saeam Shin, Joon Soo Lee, Seung-Tae Lee, Jong Rak Choi, Hoon-Chul Kang
OBJECTIVE: We aimed to identify common genes and recurrent causative variants in a large group of Asian patients with different epilepsy syndromes and subgroups. METHODS: Patients with unexplained pediatric-onset epilepsy were identified from the in-house Severance Neurodevelopmental Disorders and Epilepsy Database. All patients underwent either exome sequencing or multigene panels from January 2017 to December 2019, at Severance Children's Hospital in Korea. Clinical data were extracted from the medical records...
December 10, 2023: Epilepsia
https://read.qxmd.com/read/38061235/inherited-scn1a-missense-mutation-in-a-dravet-syndrome-family-neuropathological-correlation-family-screening-and-implications-for-adult-carriers
#32
JOURNAL ARTICLE
A Sierra-Marcos, R Ribosa-Nogué, N Vidal-Robau, I Aldecoa, E Turón, B Rodríguez-Santiago, M Turón, S Boronat, L Molina-Porcel
INTRODUCTION: Neuropathological findings in Dravet Syndrome (DS) are scarce, especially in adult patients, and often do not have a genetic confirmation. Additionally, the missense SCN1A pathogenic variant found has only been described as de novo mutation in previous literature. METHODS: We describe the clinical and genetic findings of a family (including three sisters and his father), using Sanger sequencing in the three sisters and in postmortem brain tissue in the father...
December 2, 2023: Epilepsy Research
https://read.qxmd.com/read/38059254/phenotypic-features-of-epilepsy-due-to-sodium-channelopathies-a-single-center-experience-from-india
#33
JOURNAL ARTICLE
Lakshminarayanapuram Gopal Viswanathan, Sandhya Alapati, Madhu Nagappa, Ravindranadh Mundlamuri, Raghavendra Kenchaiah, Ajay Asranna, Hansashree Padmanabha, Doniparthi V Seshagiri, Sanjib Sinha
OBJECTIVES: Nearly 40% of pediatric epilepsies have a genetic basis. There is significant phenotypic and genotypic heterogeneity, especially in epilepsy syndromes caused by sodium channelopathies. Sodium channel subunit 1A (SCN1A)-related epilepsy represents the archetypical channel-associated gene that has been linked to a wide spectrum of epilepsies of varying severity. Subsequently, other sodium channels have also been implicated in epilepsy and other neurodevelopmental disorders. This study aims to describe the phenotypes in children with sodium channelopathies from a center in Southern India...
2023: Journal of Neurosciences in Rural Practice
https://read.qxmd.com/read/38056933/perioperative-considerations-for-adult-patients-with-dravet-syndrome-in-regional-centres
#34
JOURNAL ARTICLE
Nguyen Hong Nhu Y Trinh, Amy Susan Reid, Barbara Robertson
Dravet syndrome (DS) is a rare and intractable severe form of epilepsy presenting in infancy with frequent prolonged myoclonic seizures and neurodevelopmental impairment, associated with a SCN1A gene mutation. Seizures are often triggered by temperature fluctuations and hyperthermia. This report presents a woman in her late adolescence with DS complicated with intractable catamenial epilepsy, a sex-specific form of epilepsy with seizure activity prominent during phases of the menstrual cycle. The patient underwent general anaesthesia for a hysteroscopy, cervical dilatation and endometrial curettage with Mirena insertion to improve seizure control...
December 6, 2023: BMJ Case Reports
https://read.qxmd.com/read/38049202/severe-communication-delays-are-independent-of-seizure-burden-and-persist-despite-contemporary-treatments-in-scn1a-dravet-syndrome-insights-from-the-envision-natural-history-study
#35
JOURNAL ARTICLE
M Scott Perry, Ingrid E Scheffer, Joseph Sullivan, Andreas Brunklaus, Susana Boronat, James W Wheless, Linda Laux, Anup D Patel, Colin M Roberts, Dennis Dlugos, Deborah Holder, Kelly G Knupp, Matt Lallas, Steven Phillips, Eric Segal, Patricia Smeyers, Dennis Lal, Elaine Wirrell, Sameer Zuberi, Tobias Brünger, Mary Wojnaroski, Benit Maru, Penrose O'Donnell, Magda Morton, Emma James, Maria Candida Vila, Norman Huang, Jacqueline S Gofshteyn, Salvador Rico
OBJECTIVE: Dravet Syndrome (DS) is a developmental and epileptic encephalopathy characterized by high seizure burden, treatment-resistant epilepsy, and developmental stagnation. Family members rate communication deficits among the most impactful disease manifestations. We evaluated seizure burden and language/communication development in children with DS. METHODS: ENVISION was a prospective, observational study evaluating children with DS associated with SCN1A pathogenic variants (SCN1A+ DS) enrolled at age <5 years...
December 4, 2023: Epilepsia
https://read.qxmd.com/read/38043972/pathophysiology-of-migraine-aura
#36
REVIEW
Margarita Sanchez Del Rio, Fred Michael Cutrer
Migraine aura occurs in about a third of patients with migraine and consists of a group of transient focal neurological symptoms that appear from 5 to 60min and then resolve prior to or in the early phase of a migraine headache attack. Migraine auras may consist of visual, language, unilateral sensory, or motor symptoms. There has been considerable debate as to the origins of the migrainous aura. Investigations during physiologically induced visual auras suggest that the phenomenon of cortical spreading depression or its human equivalent underpins the migraine aura...
2023: Handbook of Clinical Neurology
https://read.qxmd.com/read/38035538/non-pharmacological-therapeutic-needs-in-people-with-dravet-syndrome
#37
JOURNAL ARTICLE
Carla Ballesteros-Sayas, Alicia Muñoz-Montero, Simona Giorgi, Elena Cardenal-Muñoz, Eulalia Turón-Viñas, Federico Pallardó, José Ángel Aibar
Dravet syndrome (DS) is a genetic rare disease, which is usually caused by a mutation in the SCN1A gene. DS is characterised by a drug-resistant epilepsy and by cognitive and behavioural disturbances. Thus, DS patients require both pharmacological and non-pharmacological treatments. However, there is a paucity of studies on non-pharmacological therapies and their potential benefits. The main aim of this study was to describe the non-pharmacological therapy modalities received by DS patients and their socio-economic impact on the family...
November 29, 2023: Epilepsy & Behavior: E&B
https://read.qxmd.com/read/38035489/bilateral-and-synchronous-dents-de-scie-spikes-a-highly-specific-eeg-pattern-of-young-adult-dravet-syndrome
#38
JOURNAL ARTICLE
Philippe Gélisse, Pierre Genton, Arielle Crespel
BACKGROUND: In Dravet syndrome (DS), EEGs evolve over time. OBJECTIVE: To describe a peculiar EEG pattern in two adults with a de novo SCN1A gene mutation, in exon 5 (case 1) and 9 (case 2). METHODS: Two female patients underwent a prolonged video EEG (24 h) as part of their epilepsy assessment. RESULTS: In both cases, the EEG showed a very peculiar and stereotypical pattern of bilateral synchronous spikes at about 5-6 Hz...
January 2024: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/38025388/identification-of-five-novel-scn1a-variants
#39
JOURNAL ARTICLE
Baitao Zeng, Haoyi Zhang, Qing Lu, Qingzi Fu, Yang Yan, Wan Lu, Pengpeng Ma, Chuanxin Feng, Jiawei Qin, Laipeng Luo, Bicheng Yang, Yongyi Zou, Yanqiu Liu
BACKGROUND: Epilepsy is characterized by recurrent unprovoked seizures. Mutations in the voltage-gated sodium channel alpha subunit 1 ( SCN1A ) gene are the main monogenic cause of epilepsy. Type and location of variants make a huge difference in the severity of SCN1A disorder, ranging from the mild phenotype (genetic epilepsy with febrile seizures plus, GEFS+) to the severe phenotype (developmental and epileptic encephalopathies, DEEs). Dravet Syndrome (DS) is an infantile-onset DEE, characterized by drug-resistant epilepsy and temperature sensitivity or febrile seizures...
2023: Frontiers in Behavioral Neuroscience
https://read.qxmd.com/read/38021637/a-novel-scn1a-mutation-associated-with-reflex-seizures-induced-by-movements
#40
Chao Gong, Qing Li, Xuemei Li, Xiaoli Yu, Dong Li
A 14-year-old male patient was admitted to the hospital due to epileptic seizures, which occurred at the beginning of running exercise after being stopped and fast walking. Seizures were consistently characterized by a dystonic posture of the distal portion of the left arm-flexed and adducted by the chest without loss of consciousness. We suspected that this was movement-induced reflex epilepsy and performed whole exome sequencing. Whole exome sequencing revealed a novel SCN1A missense mutation, c...
October 2023: Curēus
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