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An enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD.

Julius Obergassel, Lisa Lohmann, Sven G Meuth, Heinz Wiendl, Oliver Grauer, Christopher Nelke,

Sporadic Creutzfeldt-Jakob disease is the predominant type of human prion disease. While routine diagnostic in phenotypic cases has advanced considerably, the clinical heterogeneity and rarity of subtypes continue to constitute a major clinical and diagnostic challenge. Here, we report a peculiar case of the Heidenhain-variant of MM1 sporadic Creutzfeldt-Jakob disease ... Read more >>

Prion (Prion)
[2020, 14(1):24-28]

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Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background.

M N Savini, A Mingarelli, A Peron, F La Briola, F Cervi, R M Alfano, M P Canevini, A Vignoli,

BACKGROUND:Seizures in individuals affected by tuberous sclerosis complex (TSC) commonly develop in the first year of life, are often preceded by a progressive deterioration of the electroencephalogram (EEG), and likely influence developmental outcome. Although early diagnosis of TSC has offered a tremendous opportunity to monitor affected patients before seizure onset, ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2020, 46(1):36]

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The Hippocampal Barque: An Epileptiform but Non-epileptic Hippocampal Entity.

Vasileios Kokkinos, Robert Mark Richardson, Alexandra Urban,

Front Hum Neurosci (Frontiers in Human Neuroscience)
[2020, 14:]

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Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).

Xianru Jiao, Jiao Xue, Pan Gong, Xinhua Bao, Ye Wu, Yuehua Zhang, Yuwu Jiang, Zhixian Yang,

OBJECTIVE:To summarize and extend the phenotypic characterization of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, and to discuss genotype-phenotype correlations. METHODS:Collecting clinical information of 17 patients with pathogenic variants in PIGN, PIGA, and PIGT. Genetic studies were performed on all patients. RESULTS:There were 7 patients with 15 PIGN mutations (one patient carrying 3 ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):78]

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A probable role of copper in the comorbidity in Wilson's and Creutzfeldt-Jakob's Diseases: a case report.

Effrosyni Koutsouraki, Dimitrios Michmizos, Olga Patsi, John Tzartos, Martha Spilioti, Marianthi Arnaoutoglou, Magda Tsolaki,

BACKGROUND:To the best of our knowledgedd, there is currently no case in the literature reporting the comorbidity of Wilson's and Creutzfeldt-Jakob disease (CJD), linked through copper. CASE PRESENTATION:A 44-year-old male with a history of inherited Wilson's disease (hepatolenticular degeneration), which manifested as mild liver injury and psychiatric symptoms, was admitted ... Read more >>

Virol. J. (Virology journal)
[2020, 17(1):35]

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Therapeutic management of stroke-like episodes varies from that of encephalitis.

Josef Finsterer,

INTRODUCTION:Stroke-like episodes (SLEs) are typical cerebral manifestations of certain mitochondrial disorders (MIDs). They are characterised by a vasogenic edema in a non-vascular distribution. PATIENTS CONCERNS:: none DIAGNOSIS:: SLEs show up on cerebral MRI as stroke-like lesions (SLLs), characterised by vasogenic edema in a non-vascular distribution. SLLs expand in the acute ... Read more >>

Medicine (Baltimore) (Medicine)
[2020, 99(8):e19141]

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Recent advances in understanding the genetics of sleep.

Maxime Jan, Bruce F. O'Hara, Paul Franken,

Sleep is a ubiquitous and complex behavior in both its manifestation and regulation. Despite its essential role in maintaining optimal performance, health, and well-being, the genetic mechanisms underlying sleep remain poorly understood. Here, we review the forward genetic approaches undertaken in the last four years to elucidate the genes and ... Read more >>

F1000Res (F1000Research)
[2020, 9:]

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Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

Filipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, Beryl Royer-Bertrand, Heidi Fodstad, Carlo Rivolta, Claudia Poloni, Andrea Superti-Furga, Eliane Roulet-Perez, Sebastien Lebon,

BACKGROUND:A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phenotype is consistent among these probands with progressive motor, cognitive, and behavioural regression in early to middle childhood. CASE PRESENTATION:We report on a child with ... Read more >>

BMC Neurol (BMC neurology)
[2020, 20(1):17]

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A Case of a Patient Who Presented with Rapidly Progressive Dementia and Capricious RT-QuIC Results.

Eunjoo Rhee, Sung Eun Chung, Hyung Ji Kim, Jae Hong Lee,

Dement Neurocogn Disord (Dementia and neurocognitive disorders)
[2020, 19(1):36-38]

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A Patient With CAD Deficiency Responsive to Uridine and Literature Review.

Ling Zhou, Han Xu, Tianshuang Wang, Ye Wu,

CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis, and pyrimidine can be alternatively recycled from uridine. Trio whole-exome sequencing identified CAD compound heterozygous mutations in a new male patient with global developmental delay (DD), refractory epilepsy, and anemia with anisopoikilocytosis. We further reviewed all published cases with ... Read more >>

Front Neurol (Frontiers in neurology)
[2020, 11:64]

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Creutzfeldt-Jakob Disease Presenting as Posterior Reversible Encephalopathy Syndrome.

Jan Bittar, Parth Joshi, Justin Genova, Kevin Yeboah, Jafar Kafaie,

Creutzfeldt-Jakob disease (CJD) is the most common human prion disease presenting with subacute cognitive decline. Common MRI findings for CJD include the T2 prolongation signal of the putamen and head of caudate. Diffusion-weighted MRI (DW-MRI) is considered to be the most sensitive technique for the detection of CJD-related abnormalities, especially ... Read more >>

Cureus (Cureus)
[2020, 12(3):e7211]

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[Clinical phenotypes of epilepsy associated with GABRA1 gene variants].

Y Yang, Y H Zhang, J Y Chen, J H Ma, D Sun, X L Yang, J Zhang, Y Chen, X R Wu,

Objective: To summarize the clinical phenotypes of epilepsy in patients with GABRA1 gene variants. Methods: A total of 11 epileptic patients (4 boys and 7 girls) who were treated in the Department of Pediatrics, Peking University First Hospital from March 2016 to July 2019 and detected with GABRA1 gene heterozygous ... Read more >>

Zhonghua Er Ke Za Zhi (Zhonghua er ke za zhi = Chinese journal of pediatrics)
[2020, 58(2):118-122]

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[Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].

P Gong, J Xue, X R Jiao, Y H Zhang, Z X Yang,

Objective: To investigate the genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy (DEE). Methods: Clinical data including the manifestations and electroencephalogram of 8 children with KCNA2 variants treated in the Department of Pediatrics, Peking University First Hospital from March 2017 to June 2019 were collected ... Read more >>

Zhonghua Er Ke Za Zhi (Zhonghua er ke za zhi = Chinese journal of pediatrics)
[2020, 58(1):35-40]

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The first reported case of Creutzfeldt-Jakob disease from Nepal.

Himal Kharel, Pabitra Adhikari, Nishan B Pokhrel, Zeni Kharel, Gaurav Nepal,

Creutzfeldt-Jakob disease (CJD) can also be diagnosed in a resource-limited setting through good clinical analysis. The diagnosis of CJD should be considered in patients with rapidly evolving neurological signs associated with cognitive disturbances even in countries with limited available sophisticated tools and where CJD was never reported before. ... Read more >>

Clin Case Rep (Clinical case reports)
[2020, 8(1):198-202]

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EEG based multi-class seizure type classification using convolutional neural network and transfer learning.

S Raghu, Natarajan Sriraam, Yasin Temel, Shyam Vasudeva Rao, Pieter L Kubben,

Recognition of epileptic seizure type is essential for the neurosurgeon to understand the cortical connectivity of the brain. Though automated early recognition of seizures from normal electroencephalogram (EEG) was existing, no attempts have been made towards the classification of variants of seizures. Therefore, this study attempts to classify seven variants ... Read more >>

Neural Netw (Neural networks : the official journal of the International Neural Network Society)
[2020, 124:202-212]

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[Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].

X J Tian, C H Ding, Y H Zhang, L F Dai, C H Chen, J W Li, X Wang, T L Han, X H Wang, J Deng,

Objective: To explore the clinical characteristics and genotyping results of childhood-onset myoclonus dystonia syndrome caused by SGCE variants. Methods: The clinical data of 9 children with SGCE-related myoclonus dystonia syndrome admitted at either the Department of Neurology, Beijing Children's Hospital, Capital Medical University or the Department of Pediatrics, Peking University ... Read more >>

Zhonghua Er Ke Za Zhi (Zhonghua er ke za zhi = Chinese journal of pediatrics)
[2020, 58(2):123-128]

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Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations.

Annalisa Vetro, Tiziana Pisano, Silvia Chiaro, Elena Procopio, Azzurra Guerra, Elena Parrini, Davide Mei, Simona Virdò, Giusi Mangone, Chiara Azzari, Renzo Guerrini,

Objective:To describe clinical, biochemical, and molecular genetic findings in a large inbred family in which 4 children with a severe early-onset epileptic-dyskinetic encephalopathy, with suppression burst EEG, harbored homozygous mutations of phosphatidylinositol glycan anchor biosynthesis, class P (PIGP), a member of the large glycosylphosphatidylinositol (GPI) anchor biosynthesis gene family. Methods:We ... Read more >>

Neurol Genet (Neurology. Genetics)
[2020, 6(1):e387]

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Germline de novo variants in CSNK2B in Chinese patients with epilepsy.

Jinliang Li, Kai Gao, Shuying Cai, Yin Liu, Yuzhen Wang, Shaoping Huang, Jian Zha, Wenjing Hu, Shujie Yu, Zhixian Yang, Han Xie, Huifang Yan, Jingmin Wang, Ye Wu, Yuwu Jiang,

CSNK2B, which encodes the beta subunit of casein kinase II (CK2), plays an important role in neuron morphology and synaptic transmission. Variants in CSNK2B associated with epilepsy and/or intellectual disability (ID)/developmental delay (DD) have been reported in five cases only. Among the 816 probands suspected hereditary epilepsy whose initial report ... Read more >>

Sci Rep (Scientific reports)
[2019, 9(1):17909]

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Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation.

Hua Li, Fang Fang, Manting Xu, Zhimei Liu, Ji Zhou, Xiaohui Wang, Xiaofei Wang, Tongli Han,

Epileptic encephalopathy, caused by mutations in the dynamin-1 (DNM1; NM_004408) gene, is a newly identified neurologic disorder in children. Thus far, the full clinical and electroencephalographic features of children with DNM1 mutation-related epileptic encephalopathy have not been established. The aim of this study is to characterize the phenotypic, genetic, and ... Read more >>

Front Pharmacol (Frontiers in Pharmacology)
[2019, 10:1454]

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Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.

Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Dorothée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily, Gaëtan Lesca,

BACKGROUND:The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutation of the chromodomain helicase DNA binding protein 2 (CHD2) gene. CASE PRESENTATION:The proband was ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):10]

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Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.

Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya Valsa Sudhakar, Samuel Philip Oommen, Sumita Danda,

Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of gamma-aminobutyric acid metabolism. Children with SSADH deficiency usually manifest with developmental delay, behavioral symptoms, language dysfunction, seizures, hypotonia, extrapyramidal symptoms, and ataxia. Diagnosis of SSADH deficiency is established by an abnormal urine organic acid pattern, including increased excretion of ... Read more >>

Ann Indian Acad Neurol (Annals of Indian Academy of Neurology)
[2020, 23(1):113-117]

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A Case of Creutzfeldt-Jakob Disease Presented as Rapid Progressive Parkinsonism.

Yoonah Park, Chan-Nyeong Lee,

Dement Neurocogn Disord (Dementia and neurocognitive disorders)
[2019, 18(4):152-156]

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Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability.

Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Peter Natesan Pushparaj, Fehmida Bibi, Adeel G Chaudhary,

Hereditary spastic paraplegias (HSPs) is a rare heterogeneous group of neurodegenerative diseases, with upper and lower limb spasticity motor neuron disintegration leading to paraplegias. NT5C2 gene (OMIM: 600417) encode a hydrolase enzyme 5'-nucleotidase, cytosolic II play an important role in maintaining the balance of purine nucleotides and free nucleobases in ... Read more >>

Front Genet (Frontiers in Genetics)
[2020, 11:14]

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A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.

Takuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, Kumiko Yanagi, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu,

BACKGROUND:TOP2B encodes type II topoisomerase beta, which controls topological changes during DNA transcription. TOP2B is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense TOP2B variant (c.187C>T) has been identified in an individual with neurodevelopmental disorder (NDD). However, the ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2020, 8(3):e1145]

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High Diagnostic Accuracy of RT-QuIC Assay in a Prospective Study of Patients with Suspected sCJD.

Michele Fiorini, Giorgia Iselle, Daniela Perra, Matilde Bongianni, Stefano Capaldi, Luca Sacchetto, Sergio Ferrari, Aldo Mombello, Sarah Vascellari, Silvia Testi, Salvatore Monaco, Gianluigi Zanusso,

The early and accurate in vivo diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) is essential in order to differentiate CJD from treatable rapidly progressive dementias. Diagnostic investigations supportive of clinical CJD diagnosis include magnetic resonance imaging (MRI), electroencephalogram (EEG), 14-3-3 protein detection, and/or real-time quaking-induced conversion (RT-QuIC) assay positivity in the ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(3):]

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