keyword
MENU ▼
Read by QxMD icon Read
search

infantile early epileptic encephalopathy

keyword
https://www.readbyqxmd.com/read/28387369/unexplained-early-infantile-epileptic-encephalopathy-in-han-chinese-children-next-generation-sequencing-and-phenotype-enriching
#1
Ahmed Arafat, Peng Jing, Yuping Ma, Miao Pu, Gai Nan, He Fang, Chen Chen, Yin Fei
Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures and progressive disturbance of cerebral function. This study was to investigate a cohort of Chinese children with unexplained EIEE, infants with previous genetic diagnoses, causative brain malformations, or inborn errors of metabolism were excluded. We used targeted next-generation sequencing to identify potential pathogenic variants of 308 genes in 68 Han Chinese patients with unexplained EIEE. A filter process was performed to prioritize rare variants of potential functional significance...
April 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28366665/the-phe932ile-mutation-in-kcnt1-channels-associated-with-severe-epilepsy-delayed-myelination-and-leukoencephalopathy-produces-a-loss-of-function-channel-phenotype
#2
Katherine M Evely, Kerri D Pryce, Arin Bhattacharjee
Sodium-activated potassium (KNa) channels contribute to firing frequency adaptation and slow after hyperpolarization. The KCNT1 gene (also known as SLACK) encodes a KNa subunit that is expressed throughout the central and peripheral nervous systems. Missense mutations of the SLACK C-terminus have been reported in several patients with rare forms of early onset epilepsy and in some cases severely delayed myelination. To date, such mutations identified in patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), epilepsy of infancy with migrating focal seizures (EIMFS) and Ohtahara syndrome (OS) have been reported to be gain-of-function mutations (Villa and Combi, 2016)...
March 31, 2017: Neuroscience
https://www.readbyqxmd.com/read/28334793/compound-heterozygous-mutations-in-the-gene-pigp-are-associated-with-early-infantile-epileptic-encephalopathy
#3
Devon L Johnstone, Thi Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D Wagner, Lijia Huang, Taila Hartley, Anik St-Denis, Françoise le Deist, Jacek Majewski, Dennis E Bulman, Taroh Kinoshita, David A Dyment, Kym M Boycott, Philippe M Campeau
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI deficiencies (IGDs), a subgroup of congenital disorders of glycosylation; they present with variable phenotypes, often including seizures, hypotonia and intellectual disability...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28328131/recessive-mutations-in-slc35a3-cause-early-onset-epileptic-encephalopathy-with-skeletal-defects
#4
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter D Jonghe, Ingo Helbig, Domenico Garozzo, Renzo Guerrini
We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28292732/alternating-hemiplegia-and-epilepsia-partialis-continua-a-new-phenotype-for-a-novel-compound-tbc1d24-mutation
#5
Francesca Ragona, Barbara Castellotti, Barbara Salis, Stefania Magri, Jacopo C DiFrancesco, Nardo Nardocci, Silvana Franceschetti, Cinzia Gellera, Tiziana Granata
Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait. The TBC1D24 gene encodes a member of the TBC family domain proteins, involved in cell signaling and oxidative stress resistance. We studied, by a Next Generation Sequencing (NGS) target re-sequencing gene approach, the DNA of a 5 year-old girl, affected by recurrent attacks of Alternating Hemiplegia (AH) and by recurrent episodes of Epilepsia Partialis Continua (EPC)...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28193882/neuronal-hyperexcitability-in-a-mouse-model-of-scn8a-epileptic-encephalopathy
#6
Luis F Lopez-Santiago, Yukun Yuan, Jacy L Wagnon, Jacob M Hull, Chad R Frasier, Heather A O'Malley, Miriam H Meisler, Lori L Isom
Patients with early infantile epileptic encephalopathy (EIEE) experience severe seizures and cognitive impairment and are at increased risk for sudden unexpected death in epilepsy (SUDEP). EIEE13 [Online Mendelian Inheritance in Man (OMIM) # 614558] is caused by de novo missense mutations in the voltage-gated sodium channel gene SCN8A Here, we investigated the neuronal phenotype of a mouse model expressing the gain-of-function SCN8A patient mutation, p.Asn1768Asp (Nav1.6-N1768D). Our results revealed regional and neuronal subtype specificity in the effects of the N1768D mutation...
February 28, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28140735/risk-factors-affecting-prognosis-in-infantile-spasm
#7
Gulen Gul Mert, Mihriban Ozlem Herguner, Faruk Incecik, Sakir Altunbasak, Duygu Sahan, Ilker Unal
AIM: To assess risk factors that affect epilepsy prognosis and neurodevelopmental outcome and response to treatment in patients diagnosed with infantile spasm. METHODS: In this study, demographics, treatment modalities, etiologies, risk factors affecting neurodevelopmental outcome and epilepsy prognosis were assessed retrospectively at the end of a minimum 24-months follow-up of 104 patients diagnosed with infantile spasm from May 2012 to October 2015. RESULTS: Neonatal seizure during neonatal period, abnormal head circumference, young age at the time of presentation and early gestational age, symptomatic etiology, abnormal initial examination and abnormal development test at the time of diagnosis, consanguinity, the medical center where treatment was started in the second center or beyond and magnetic resonance imaging finding were found to be statistically significant for poor prognosis in terms of neurodevelopment (p < 0...
March 29, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28043061/fars2-mutation-and-epilepsy-possible-link-with-early-onset-epileptic-encephalopathy
#8
Jae So Cho, Seung Hyo Kim, Ha Young Kim, Taesu Chung, Dongsup Kim, Sesong Jang, Seung Bok Lee, Seung Keun Yoo, Jongyeon Shin, Jong-Il Kim, Hunmin Kim, Hee Hwang, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, Byung Chan Lim
Early-onset epileptic encephalopathy (EOEE) consists of a heterogeneous group of epilepsy phenotypes. Recent technological advances in molecular biology have also rapidly expanded the genotype of EOEE. Genes involved in diverse molecular pathways, including ion channels, synaptic structure, transcription regulation, and cellular growth, have been implicated in EOEE. Mitochondrial aminoacyl tRNA synthetase, which plays a key role in mitochondrial protein synthesis by attaching 20 different amino acids to the tRNA tail, has been recently linked with the epilepsy phenotype...
December 2, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/28005050/-genetics-and-treatment-of-early-infantile-epileptic-encephalopathies
#9
A A Sharkov, I V Sharkova, E D Belousova, E L Dadali
Epileptic encephalopathies (EE) are the group of progressive conditions with various etiologies that can produce neurocognitive deficit both per se and due to constant epileptiform discharges. Epileptic encephalopathies constitute about 15% of epilepsy in childhood and 40% of all seizures occurring in the first 3 years of life. Ten syndrome forms of EE are identified. Genetic factors contribute to 70-80% of all epileptic diseases and approximately 40% of idiopathic epilepsies have a monogenic mode of inheritance...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27900360/scn8a-mutation-in-a-child-presenting-with-seizures-and-developmental-delays
#10
Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams, Kenneth Ward, Justine Coppinger, Lesa Nelson, Miriam H Meisler, Kai Wang, Reid Robison, Gholson J Lyon
The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own.
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27876397/efficacy-of-sodium-channel-blockers-in-scn2a-early-infantile-epileptic-encephalopathy
#11
Robertino Dilena, Pasquale Striano, Elena Gennaro, Laura Bassi, Sara Olivotto, Laura Tadini, Fabio Mosca, Sergio Barbieri, Federico Zara, Monica Fumagalli
BACKGROUND: Recent clinical evidence supports a targeted therapeutic approach for genetic epileptic encephalopathies based on the molecular dysfunction. PATIENT DESCRIPTION: A 2-day-old male infant presented with epileptic encephalopathy characterized by burst-suppression EEG background and tonic-clonic migrating partial seizures. The condition was refractory to phenobarbital, pyridoxine, pyridoxal phosphate and levetiracetam, but a dramatic response to an intravenous loading dose of phenytoin was documented by video-EEG monitoring...
April 2017: Brain & Development
https://www.readbyqxmd.com/read/27867041/infantile-epileptic-encephalopathy-associated-with-scn2a-mutation-responsive-to-oral-mexiletine
#12
Laura A Foster, Maria R Johnson, John T MacDonald, Peter I Karachunski, Thomas R Henry, David R Nascene, Brian P Moran, Gerald V Raymond
BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy. METHOD: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27791149/cardiac-arrhythmia-in-a-mouse-model-of-sodium-channel-scn8a-epileptic-encephalopathy
#13
Chad R Frasier, Jacy L Wagnon, Yangyang Oliver Bao, Luke G McVeigh, Luis F Lopez-Santiago, Miriam H Meisler, Lori L Isom
Patients with early infantile epileptic encephalopathy (EIEE) are at increased risk for sudden unexpected death in epilepsy (SUDEP). De novo mutations of the sodium channel gene SCN8A, encoding the sodium channel Nav1.6, result in EIEE13 (OMIM 614558), which has a 10% risk of SUDEP. Here, we investigated the cardiac phenotype of a mouse model expressing the gain of function EIEE13 patient mutation p.Asn1768Asp in Scn8a (Nav1.6-N1768D). We tested Scn8a(N1768D/+) mice for alterations in cardiac excitability. We observed prolongation of the early stages of action potential (AP) repolarization in mutant myocytes vs...
October 26, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27789573/a-de-novo-missense-mutation-of-gabrb2-causes-early-myoclonic-encephalopathy
#14
Atsushi Ishii, Jing-Qiong Kang, Cara C Schornak, Ciria C Hernandez, Wangzhen Shen, Joseph C Watkins, Robert L Macdonald, Shinichi Hirose
BACKGROUND: Early myoclonic encephalopathy (EME), a disease with a devastating prognosis, is characterised by neonatal onset of seizures and massive myoclonus accompanied by a continuous suppression-burst EEG pattern. Three genes are associated with EMEs that have metabolic features. Here, we report a pathogenic mutation of an ion channel as a cause of EME for the first time. METHODS: Sequencing was performed for 214 patients with epileptic seizures using a gene panel with 109 genes that are known or suspected to cause epileptic seizures...
March 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27781028/phenotypic-variability-from-benign-infantile-epilepsy-to-ohtahara-syndrome-associated-with-a-novel-mutation-in-scn2a
#15
Steffen Syrbe, Boris S Zhorov, Astrid Bertsche, Matthias K Bernhard, Frauke Hornemann, Ulrike Mütze, Jessica Hoffmann, Konstanze Hörtnagel, Wieland Kiess, Franz W Hirsch, Johannes R Lemke, Andreas Merkenschlager
Mutations in SCN2A have been associated with benign familial neonatal-infantile seizures (BFNIS) as well as infantile-onset epileptic encephalopathy, such as Ohtahara syndrome (OS). We describe a family with 3 affected individuals carrying the novel SCN2A missense variant c.1147C>G, p.Q383E affecting a residue proximal to the highly conserved selectivity filter in the P-loop of the voltage-gated sodium channel (Nav1.2). All 3 individuals presented with seizures in early infancy. However, there were striking differences in the spectrum of clinical presentations, ranging from BFNIS to OS...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27690368/hereditary-dopamine-transporter-deficiency-syndrome-challenges-in-diagnosis-and-treatment
#16
Yilmaz Yildiz, Emine Pektas, Aysegul Tokatli, Goknur Haliloglu
Hereditary dopamine transporter deficiency syndrome (DTDS) is a neurotransmitter disorder caused by a defect in the neuronal uptake of dopamine. To date, 20 patients are reported in the literature, and we present 2 additional patients with DTDS harboring novel homozygous SLC6A3 gene mutations. Patient A is an 8-month-old male with neonatal-onset hypotonia, who developed orolingual dyskinetic movements and oculogyric crises after 4 months of age, with evolution to status dystonicus episodes. Patient B is a 4-year-old male who also had hypotonia since birth, with additional severe limb contractions and oculogyric crises after the age of 3 months, with a misdiagnosis of epileptic encephalopathy...
February 2017: Neuropediatrics
https://www.readbyqxmd.com/read/27659738/scn8a-epileptic-encephalopathy-detection-of-fetal-seizures-guides-multidisciplinary-approach-to-diagnosis-and-treatment
#17
Melanie A McNally, Julia Johnson, Thierry A Huisman, Andrea Poretti, Kristin W Baranano, Ahmet A Baschat, Carl E Stafstrom
BACKGROUND: SCN8A mutations are rare and cause a phenotypically heterogeneous early onset epilepsy known as early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558). There are currently no clear genotype-phenotype correlations to help guide patient counseling and management. PATIENT DESCRIPTION: We describe a patient with EIEE13 (de novo heterozygous pathogenic mutation in SCN8A - p.Ile240Val (ATT>GTT)) who presented prenatally with maternally reported intermittent, rhythmic movements that, when observed on ultrasound, were concerning for fetal seizures...
November 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27613244/do-the-exome-a-case-of-williams-beuren-syndrome-with-severe-epilepsy-due-to-a-truncating-de-novo-variant-in-gabra1
#18
Bernt Popp, Regina Trollmann, Christian Büttner, Almuth Caliebe, Christian T Thiel, Ulrike Hüffmeier, André Reis, Christiane Zweier
Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c...
October 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27600704/slc13a5-is-the-second-gene-associated-with-kohlsch%C3%A3-tter-t%C3%A3-nz-syndrome
#19
Anna Schossig, Agnès Bloch-Zupan, Adrian Lussi, Nicole I Wolf, Salmo Raskin, Monika Cohen, Fabienne Giuliano, Julie Jurgens, Birgit Krabichler, David A Koolen, Nara Lygia de Macena Sobreira, Elisabeth Maurer, Michèle Muller-Bolla, Johann Penzien, Johannes Zschocke, Ines Kapferer-Seebacher
BACKGROUND: Kohlschütter-Tönz syndrome (KTZS) is a rare autosomal-recessive disease characterised by epileptic encephalopathy, intellectual disability and amelogenesis imperfecta (AI). It is frequently caused by biallelic mutations in ROGDI. Here, we report on individuals with ROGDI-negative KTZS carrying biallelic SLC13A5 mutations. METHODS: In the present cohort study, nine individuals from four families with the clinical diagnosis of KTZS and absence of ROGDI mutations as well as one patient with unexplained epileptic encephalopathy were investigated by clinical and dental evaluation, parametric linkage analysis (one family), and exome and/or Sanger sequencing...
January 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27599155/cdkl5-gene-related-epileptic-encephalopathy-in-estonia-four-cases-one-novel-mutation-causing-severe-phenotype-in-a-boy-and-overview-of-the-literature
#20
REVIEW
Stella Lilles, Inga Talvik, Klari Noormets, Ulvi Vaher, Katrin Õunap, Tiia Reimand, Valentin Sander, Pilvi Ilves, Tiina Talvik
Cyclin-dependent kinase-like 5 (CDKL5) gene mutations have mainly been found in females with early infantile epileptic encephalopathy (EIEE), severe intellectual disability, and Rett-like features. To date, only 22 boys have been reported, presenting with far more severe phenotypic features. We report the first cases of CDKL5 gene-related EIEE in Estonia diagnosed using panels of epilepsy-associated genes and describe the phenotype-genotype correlations in three male and one female patient. One of the mutations, identified in a male patient, was a novel de novo hemizygous frameshift mutation (NM_003159...
December 2016: Neuropediatrics
keyword
keyword
73826
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"