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JOURNAL ARTICLE
Makoto Nishioka, Mitsuo Motobayashi, Tetsuhiro Fukuyama, Yuji Inaba
BACKGROUND: Post-encephalopathic epilepsy (PEE) is a serious complication of acute encephalopathy syndromes, and is more frequent in patients with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) than in children with acute encephalopathy. However, a risk factor analysis using laboratory findings in the acute phase of AESD has not yet been performed. Therefore, the present study examined risk factors of AESD-related PEE using laboratory parameters in the acute phase of AESD...
December 18, 2023: Brain & Development
#2
JOURNAL ARTICLE
Delnaz Roshandel, Eric J Sanders, Amy Shakeshaft, Naim Panjwani, Fan Lin, Amber Collingwood, Anna Hall, Katherine Keenan, Celine Deneubourg, Filippo Mirabella, Simon Topp, Jana Zarubova, Rhys H Thomas, Inga Talvik, Marte Syvertsen, Pasquale Striano, Anna B Smith, Kaja K Selmer, Guido Rubboli, Alessandro Orsini, Ching Ching Ng, Rikke S Møller, Kheng Seang Lim, Khalid Hamandi, David A Greenberg, Joanna Gesche, Elena Gardella, Choong Yi Fong, Christoph P Beier, Danielle M Andrade, Heinz Jungbluth, Mark P Richardson, Annalisa Pastore, Manolis Fanto, Deb K Pal, Lisa J Strug
Elevated impulsivity is a key component of attention-deficit hyperactivity disorder (ADHD), bipolar disorder and juvenile myoclonic epilepsy (JME). We performed a genome-wide association, colocalization, polygenic risk score, and pathway analysis of impulsivity in JME (n = 381). Results were followed up with functional characterisation using a drosophila model. We identified genome-wide associated SNPs at 8q13.3 (P = 7.5 × 10-9 ) and 10p11.21 (P = 3...
September 28, 2023: NPJ Genomic Medicine
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JOURNAL ARTICLE
Sanmei Wang, Di Cui, Xiuxin Ling, Yu Hou, Jing Sun
Autosomal dominant sleep-related hypermotor epilepsy is a rare disease caused by pathogenic variants of CHRNB2, CHRNA4, and CHRNA2 genes, with nocturnal frontal lobe epilepsy as the main symptoms. Syntaxin binding protein 1 (STXBP1) gene mutation can cause developmental and epileptic encephalopathy 4, mainly presenting as a developmental and epileptic encephalopathy. We performed the exome-targeted next-generation sequencing in our patient and identified two heterozygous variants: c.963 + 2T>C of STXBP1 and c...
June 12, 2023: Psychiatric Genetics
#4
JOURNAL ARTICLE
Sanmei Wang, Di Cui, Xiuxin Ling, Yu Hou, Jing Sun
Autosomal dominant sleep-related hypermotor epilepsy is a rare disease caused by pathogenic variants of CHRNB2, CHRNA4, and CHRNA2 genes, with nocturnal frontal lobe epilepsy as the main symptoms. Syntaxin binding protein 1 (STXBP1) gene mutation can cause developmental and epileptic encephalopathy 4, mainly presenting as a developmental and epileptic encephalopathy. We performed the exome-targeted next-generation sequencing in our patient and identified two heterozygous variants: c.963 + 2T>C of STXBP1 and c...
October 1, 2023: Psychiatric Genetics
#5
JOURNAL ARTICLE
Mingyue Ren, Hong Zheng, Xiangpeng Lu, Wenjun Lian, Bin Feng
BACKGROUND: The TBL1XR1 gene encodes the protein transducin-beta-like 1 receptor1, widely distributed in the pituitary, hypothalamus, white and brown adipose tissue, muscle, and liver. Current evidence suggests that heterozygous TBL1XR1 pathogenic variants can lead to a wide spectrum of phenotypes. This study aims to reveal the clinical phenotype and genetic profiles of de novo TBL1XR1 variations and summarize the relevant clinical and genetic features. METHODS: We analyzed four new cases harboring de novo TBL1XR1 variants and reviewed all reported cases...
September 6, 2023: Gene
#6
Sai Chandar Dudipala, Raja Vijendra Reddy, Roop Shankar
Hyperekplexia (HK) or startle disease is an uncommon, early infantile onset, potentially treatable neurogenetic disorder. It is characterized by an exaggerated startle reflex in response to tactile or acoustic or visual stimuli followed by generalized hypertonia. It is caused by genetic mutations in a number of different genes such as GLRA1 , SLC6A5 , GLRB , GPHN , and ARHGEF9 . HK is frequently misdiagnosed as a form of epilepsy and is advised for prolonged antiseizure medications. Here, we report a two-month-old female child with HK, who was treated for epilepsy...
April 2023: Curēus
#7
JOURNAL ARTICLE
Gianni Cutillo, Raffaello Bonacchi, Giordano Cecchetti, Anna Bellini, Marco Vabanesi, Alberto Zambon, Maria Grazia Natali Sora, Cristina Baldoli, Ubaldo Del Carro, Fabio Minicucci, Giovanna F Fanelli, Massimo Filippi
PURPOSE: Interstitial 6q deletions are associated with rare genetic syndromes characterized by different signs, including developmental delay, dysmorphisms, and Prader-Willi (PWS)-like features. Drug-resistant epilepsy, a relatively rare finding in this condition, is often a challenge in terms of therapeutic approach. Our aim is to present a new case of interstitial 6q deletion and to conduct a systematic review of the literature with an emphasis on the neurophysiological and clinical traits of afflicted individuals...
May 14, 2023: Seizure: the Journal of the British Epilepsy Association
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JOURNAL ARTICLE
Deepika Dogra, Paola L Meza-Santoscoy, Cezar Gavrilovici, Renata Rehak, Cristiane L R de la Hoz, Kingsley Ibhazehiebo, Jong M Rho, Deborah M Kurrasch
OBJECTIVE: KCNA1 mutations are associated with a rare neurological movement disorder known as episodic ataxia type 1 (EA1), and epilepsy is a common comorbidity. Current medications provide only partial relief for ataxia and/or seizures, making new drugs needed. Here, we characterized zebrafish kcna1a-/- as a model of EA1 with epilepsy and compared the efficacy of the first-line therapy carbamazepine in kcna1a-/- zebrafish to Kcna1-/- rodents. METHODS: CRISPR/Cas9 mutagenesis was used to introduce a mutation in the sixth transmembrane segment of the zebrafish Kcna1 protein...
August 2023: Epilepsia
#9
JOURNAL ARTICLE
Takeshi Inoue, Ichiro Kuki, Takehiro Uda, Noritsugu Kunihiro, Ryoko Umaba, Saya Koh, Megumi Nukui, Shin Okazaki, Hiroshi Otsubo
OBJECTIVE: We aimed to analyze the efficiency of corpus callosotomy (CC) and subsequent disconnection surgeries in patients with late-onset epileptic spasms (LOES) by comparing post-encephalitis/encephalopathy (PE) and non-encephalitis/encephalopathy (NE). We hypothesized these surgeries can control potential focal onset epileptic spasms (ES) in the NE group but not in the PE group. METHODS: We retrospectively included 23 patients (12 with PE and 11 with NE) who initially underwent CC and subsequent disconnection surgeries (five NE)...
January 24, 2023: Epilepsia Open
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JOURNAL ARTICLE
Dina Ben Mohamed, Rania Zouari, Jihen Ketata, Fatma Nabli, Samir Blel, Samia Ben Sassi
INTRODUCTION: At the beginning of the coronavirus virus (COVID-19) pandemic, the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV2) was thought to cause mainly respiratory symptoms, largely sparing the brain and the rest of the nervous system. However, as the knowledge about COVID-19 infection progresses and the number of COVID19-related neurological manifestations reports increases, neurotropism and neuroinvasion were finally recognized as major features of the SARS-CoV-2. Neurological manifestations involving the central nervous system are sparse, ranging from headaches, drowsiness, and neurovascular attacks to seizures and encephalitis [1]...
January 2023: Seizure: the Journal of the British Epilepsy Association
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JOURNAL ARTICLE
Didem Tezen, Gülşah Şimşir, Özlem Çokar, Veysi Demirbilek, A Nazlı Başak, Zuhal Yapıcı
BACKGROUND: Hyperekplexia is a disease that progresses with excessive startle attacks and is included in the differential diagnosis of epilepsy and many movement disorders. METHODS: The WES results were validated in available family members by Sanger sequencing, or in the case of deletion, PCR followed by agarose gel electrophoresis was performed. RESULTS: WES analysis revealed the previously reported homozygous c.277C>T p.Arg93Trp variant in the GLRA1 gene (ENST00000455880...
December 2022: Parkinsonism & related Disorders
#12
JOURNAL ARTICLE
Antonio Vitobello, Benoit Mazel, Vera G Lelianova, Alice Zangrandi, Evelina Petitto, Jason Suckling, Vincenzo Salpietro, Robert Meyer, Miriam Elbracht, Ingo Kurth, Thomas Eggermann, Ouafa Benlaouer, Gurprit Lall, Alexander G Tonevitsky, Daryl A Scott, Katie M Chan, Jill A Rosenfeld, Sophie Nambot, Hana Safraou, Ange-Line Bruel, Anne-Sophie Denommé-Pichon, Frédéric Tran Mau-Them, Christophe Philippe, Yannis Duffourd, Hui Guo, Andrea K Petersen, Leslie Granger, Amy Crunk, Allan Bayat, Pasquale Striano, Federico Zara, Marcello Scala, Quentin Thomas, Andrée Delahaye, Jean-Madeleine de Sainte Agathe, Julien Buratti, Serguei V Kozlov, Laurence Faivre, Christel Thauvin-Robinet, Yuri Ushkaryov
ADGRL1 (latrophilin 1), a well-characterized adhesion G protein-coupled receptor, has been implicated in synaptic development, maturation, and activity. However, the role of ADGRL1 in human disease has been elusive. Here, we describe ten individuals with variable neurodevelopmental features including developmental delay, intellectual disability, attention deficit hyperactivity and autism spectrum disorders, and epilepsy, all heterozygous for variants in ADGRL1. In vitro, human ADGRL1 variants expressed in neuroblastoma cells showed faulty ligand-induced regulation of intracellular Ca2+ influx, consistent with haploinsufficiency...
August 4, 2022: American Journal of Human Genetics
#13
JOURNAL ARTICLE
Kento Ohta, Tohru Okanishi, Sotaro Kanai, Tetsuya Okazaki, Ayataka Fujimoto, Yoshihiro Maegaki
No abstract text is available yet for this article.
June 1, 2022: Epileptic Disorders: International Epilepsy Journal with Videotape
#14
JOURNAL ARTICLE
Patrick M Walsh
While French biologists were turning a cold shoulder to On the Origin of Species in the 1860s, Charles Darwin was earnestly pursuing a professional connection with one French physiologist in particular: Charles Brown-Séquard. Darwin had been closely following Brown-Séquard's startling experiments on guinea pigs, which demonstrated that experimentally induced epilepsy could pass from parent to offspring. In Darwin's mind, Brown-Séquard had produced the most convincing evidence to date that acquired traits could be inherited...
September 7, 2021: Journal of the History of Biology
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JOURNAL ARTICLE
Derek G Neupert, Kevin M Rathke, Mohamad A Mikati
Hereditary hyperekplexia is a rare neurologic disorder characterized by an exaggerated startle response with profound muscle stiffness.1,2 Given the nature of the spells, this condition is often misdiagnosed as epilepsy. Mutations in glycine receptors and transporters are the primary cause of this syndrome.1 We present an example of stimulus-induced hyperekplexia captured on video EEG in a 7-week-old girl with compound heterozygous variants in the presynaptic glycine transporter gene SLC6A5 .
November 30, 2021: Neurology
#16
REVIEW
Samrina Hanif, Shane T Musick
Reflex seizures (RS) are epileptic events that are objectively and consistently elicited in response to a specific afferent stimulus or by an activity of the patient. The specific stimulus can be a variety of heterogenous intrinsic or extrinsic factors, ranging from the simple to the complex, such as flashing lights or reading a book. These seizures can take a variety of forms, comprising either general or focal onset, with or without secondary generalization. Reflex epilepsies (RE) are classified as a specific syndrome in which all epileptic seizures are precipitated by sensory stimuli...
July 2021: Aging and Disease
#17
JOURNAL ARTICLE
Margaret C Savage, Agnieszka Kielian, Christopher Elitt, Jurriaan M Peters, Darius Ebrahimi-Fakhari
No abstract text is available yet for this article.
June 30, 2021: Neuropediatrics
#18
Kutluhan Yilmaz
No abstract text is available yet for this article.
March 31, 2021: Journal of Paediatrics and Child Health
#19
JOURNAL ARTICLE
Mihai Dragos Maliia, Philippe Kahane, Anca Nica, Ioana Mindruta, Laura Castana, Francesco Cardinale, Stefano Francione
The SEEG International Course, organised in 2017, focused on the investigation and surgery of insulo-perisylvian epilepsies. We present one representative complex case that was discussed. The patient had seizures displaying startle/reflex components. He was MRI negative, while other non-invasive investigations offered only partially concordant data. Initial SEEG exploration resulted in an incomplete definition of the epileptogenic zone. A second SEEG followed, which led to a thorough assessment of the seizure onset zone and the epileptic network, localised to the lateral inferior premotor cortex, explaining the incongruent data obtained beforehand...
February 1, 2021: Epileptic Disorders: International Epilepsy Journal with Videotape
#20
JOURNAL ARTICLE
Valentina De Giorgis, Costanza Varesio, Maurizio Viri, Lucio Giordano, Roberta La Piana, Davide Tonduti, Federico Roncarolo, Silvia Masnada, Anna Pichiecchio, Pierangelo Veggiotti, Elisa Fazzi, Simona Orcesi
OBJECTIVE: Although epileptic seizures occur in approximately a quarter of patients with Aicardi-Goutières syndrome (AGS), their phenotypic and electrophysiological characterization remains elusive. The aim of our study was to characterize epilepsy phenotypes and electroencephalographic (EEG) patterns in AGS and look for possible correlations with clinical, genetic and neuroradiological features. METHODS: We selected patients with an established AGS diagnosis followed at three Italian reference centers...
March 2021: Seizure: the Journal of the British Epilepsy Association
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