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Seizures, developmental delay

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https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#1
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28515470/a-novel-missense-mutation-in-the-hect-domain-of-nedd4l-identified-in-a-girl-with-periventricular-nodular-heterotopia-polymicrogyria-and-cleft-palate
#2
Koji Kato, Fuyuki Miya, Ikumi Hori, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh
We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HECT domain of NEDD4L have been reported in patients with a neurodevelopmental disorder along with similar brain malformations. All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, cleft palate and syndactyly...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28512024/repurposing-of-proton-pump-inhibitors-as-first-identified-small-molecule-inhibitors-of-endo-%C3%AE-n-acetylglucosaminidase-engase-for-the-treatment-of-ngly1-deficiency-a-rare-genetic-disease
#3
Yiling Bi, Matthew Might, Hariprasad Vankayalapati, Balagurunathan Kuberan
N-Glycanase deficiency, or NGLY1 deficiency, is an extremely rare human genetic disease. N-Glycanase, encoded by the gene NGLY1, is an important enzyme involved in protein deglycosylation of misfolded proteins. Deglycosylation of misfolded proteins precedes the endoplasmic reticulum (ER)-associated degradation (ERAD) process. NGLY1 patients produce little or no N-glycanase (Ngly1), and the symptoms include global developmental delay, frequent seizures, complex hyperkinetic movement disorder, difficulty in swallowing/aspiration, liver dysfunction, and a lack of tears...
May 5, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28491196/cerebral-palsy-and-seizures-in-a-child-with-tubulinopathy-pattern-dysgenesis-and-focal-cortical-dysplasia
#4
Kevin M Sweet, Dennis W W Shaw, Teresa Chapman
A 7-year-old boy with a history of spasticity, global developmental delay, and seizures was given the general diagnosis of cerebral palsy at an early age. Chromosomal array analysis performed at an outside center was normal. The patient's family sought neurodevelopmental pediatric care at a new institution following a move out of state. Electroencephalography confirmed abnormal epileptogenic activity. Brain magnetic resonance imaging showed findings consistent with a tubulin gene defect (tubulinopathy) and of focal cortical dysplasia, as well as evidence of a remote occipital lobe injury...
June 2017: Radiology case reports
https://www.readbyqxmd.com/read/28483337/individualised-prediction-model-of-seizure-recurrence-and-long-term-outcomes-after-withdrawal-of-antiepileptic-drugs-in-seizure-free-patients-a-systematic-review-and-individual-participant-data-meta-analysis
#5
Herm J Lamberink, Willem M Otte, Ada T Geerts, Milen Pavlovic, Julio Ramos-Lizana, Anthony G Marson, Jan Overweg, Letícia Sauma, Luigi M Specchio, Michael Tennison, Tania M O Cardoso, Shlomo Shinnar, Dieter Schmidt, Karin Geleijns, Kees P J Braun
BACKGROUND: People with epilepsy who became seizure-free while taking antiepileptic drugs might consider discontinuing their medication, with the possibility of increased quality of life because of the elimination of adverse events. The risk with this action, however, is seizure recurrence. The objectives of our study were to identify predictors of seizure recurrence and long-term seizure outcomes and to produce nomograms for estimation of individualised outcomes. METHODS: We did a systematic review and meta-analysis, and identified eligible articles and candidate predictors, using PubMed and Embase databases with a last update on Nov 6, 2014...
May 5, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28482824/novel-missense-mutation-in-the-bzip-transcription-factor-maf-associated-with-congenital-cataract-developmental-delay-seizures-and-hearing-loss-aym%C3%A3-gripp-syndrome
#6
Shari Javadiyan, Jamie E Craig, Shiwani Sharma, Karen M Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau, Kathryn P Burdon
BACKGROUND: Cataract is a major cause of severe visual impairment in childhood. The purpose of this study was to determine the genetic cause of syndromic congenital cataract in an Australian mother and son. METHOD: Fifty-one genes associated with congenital cataract were sequenced in the proband using a custom Ampliseq library on the Ion Torrent Personal Genome Machine (PGM). Reads were aligned against the human genome (hg19) and variants were annotated. Variants were prioritised for validation by Sanger sequencing if they were novel, rare or previously reported to be associated with paediatric cataract and were predicted to be protein changing...
May 8, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28482374/novel-rrm2b-mutation-and-severe-mitochondrial-dna-depletion-report-of-2-cases-and-review-of-the-literature
#7
Nesia Kropach, Vered Shkalim-Zemer, Naama Orenstein, Oded Scheuerman, Rachel Straussberg
Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings with early fatal encephalomyopathy and a novel mutation in the RRM2B gene. The relevant literature is reviewed. Methods We describe two brothers aged 2.5 months and 1 month, respectively, who were hospitalized in a tertiary pediatric medical center for evaluation of focal seizures, hypotonia, poor feeding, failure to thrive, lactic acidosis, and developmental delay. The older brother also had seizures, and the younger had severe bilateral neurosensory deafness...
May 8, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28480665/dend-syndrome-with-heterozygous-kcnj11-mutation-successfully-treated-with-sulfonylurea
#8
Ja Hyang Cho, Eungu Kang, Beom Hee Lee, Gu Hwan Kim, Jin Ho Choi, Han Wook Yoo
Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (KATP channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on a patient with DEND syndrome following initial misdiagnosis with type 1 DM, who was successfully switched from insulin to sulfonylurea therapy. A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia...
June 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28462453/preclinical-screening-for-treatments-for-infantile-spasms-in-the-multiple-hit-rat-model-of-infantile-spasms-an-update
#9
Aristea S Galanopoulou, Wenzhu B Mowrey, Wei Liu, Qianyun Li, Oleksii Shandra, Solomon L Moshé
Infantile spasms are the typical seizures of West syndrome, an infantile epileptic encephalopathy with poor outcomes. There is an increasing need to identify more effective and better tolerated treatments for infantile spasms. We have optimized the rat model of infantile spasms due to structural etiology, the multiple-hit rat model, for therapy discovery. Here, we test three compounds administered after spasms induction in the multiple hit model for efficacy and tolerability. Specifically, postnatal day 3 (PN3) male Sprague-Dawley rats were induced by right intracerebral injections of doxorubicin and lipopolysaccharide...
May 2, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28457992/influence-of-seizures-on-early-development-in-tuberous-sclerosis-complex
#10
Jamie K Capal, Beatriz Bernardino-Cuesta, Paul S Horn, Donna Murray, Anna Weber Byars, Nicole M Bing, Bridget Kent, Deborah A Pearson, Mustafa Sahin, Darcy A Krueger
OBJECTIVE: Epilepsy is commonly seen in Tuberous Sclerosis Complex (TSC). The relationship between seizures and developmental outcomes has been reported, but few studies have examined this relationship in a prospective, longitudinal manner. The objective of the study was to evaluate the relationship between seizures and early development in TSC. METHODS: Analysis of 130 patients ages 0-36months with TSC participating in the TSC Autism Center of Excellence Network, a large multicenter, prospective observational study evaluating biomarkers predictive of autism spectrum disorder (ASD), was performed...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28443597/a-different-slc2a1-gene-mutation-in-glut-1-deficiency-syndrome-c-734a-c
#11
Rüya Çolak, Senem Alkan Özdemir, Ezgi Yangın Ergon, Mehtap Kağnıcı, Şebnem Çalkavur
BACKGROUND: Neonatal seizures can be the first symptom of the inborn errors of metabolism. Glucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose transport into the brain. GLUT1DS patient presents with infantile seizures with resistant to traditional seizure medications, developmental delay, acquired microcephaly, spasticity and ataxia. CASE REPORT: Here, we report a rare case of Glucose transporter type 1 deficiency syndrome caused by a different pathogenic variant in a 10-day-old neonate who presented with intractable seizures and respiratory arrest...
April 13, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/28442529/coinheritance-of-novel-mutations-in-scn1a-causing-gefs-and-in-kdm6a-causing-kabuki-syndrome-in-a-family
#12
Jisun Kim, Cha Gon Lee
Because the differentiation between phenotypic expansion and blended phenotypes is not clear, the mixed phenotypes of blended rare genetic diseases make diagnosis difficult. We describe a family with the co-existence and co-segregation of generalized epilepsy with febrile seizures plus (GEFS+) and Kabuki syndrome (KS). The proband, a 7-year-old male, presented with GEFS+, dysmorphic facial features, short stature, developmental delay, and intellectual disability. Two novel missense mutations: p.G325A in the KDM6A gene responsible for KS and p...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28436452/disrupted-neuronal-maturation-in-angelman-syndrome-derived-induced-pluripotent-stem-cells
#13
James J Fink, Tiwanna M Robinson, Noelle D Germain, Carissa L Sirois, Kaitlyn A Bolduc, Amanda J Ward, Frank Rigo, Stormy J Chamberlain, Eric S Levine
Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy affect. Here, we explored the underlying pathophysiology using induced pluripotent stem cell-derived neurons from AS patients and unaffected controls. AS-derived neurons showed impaired maturation of resting membrane potential and action potential firing, decreased synaptic activity and reduced synaptic plasticity...
April 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28424003/phenotypic-heterogeneity-in-a-congenital-disorder-of-glycosylation-caused-by-mutations-in-stt3a
#14
Arunabha Ghosh, Jill Urquhart, Sarah Daly, Anne Ferguson, Diana Scotcher, Andrew A M Morris, Jill Clayton-Smith
STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex. A congenital disorder of glycosylation caused by mutations in STT3A has only been reported in one family to date, associated with a Type I congenital disorder of glycosylation pattern of transferrin glycoforms. The authors describe a further 5 related individuals with a likely pathogenic variant in STT3A, 2 of whom also had variants in TUSC3. Common phenotypic features in all symptomatic individuals include developmental delay, intellectual disability, with absent speech and seizures...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28419980/evaluation-of-glut1-variation-in-non-acquired-focal-epilepsy
#15
Alexander Peeraer, John A Damiano, Susannah T Bellows, Ingrid E Scheffer, Samuel F Berkovic, Saul A Mullen, Michael S Hildebrand
Brain glucose transport is dependent on glucose transporter 1 (GLUT1), encoded by the solute carrier family 2 member 1 (SLC2A1) gene. Mutations in SLC2A1 cause GLUT1 deficiency which is characterized by a broad spectrum of neurological phenotypes including generalized epilepsy, motor disorders, developmental delay and microcephaly. Recent case reports suggest SLC2A1 mutations can contribute to non-acquired focal epilepsy (NAFE) but interrogation of a large patient cohort has not been reported. We studied 200 patients with NAFE (126 with temporal lobe epilepsy) comprising 104 females and 96 males with a mean age of onset of 18 years...
April 10, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28417072/atypical-juvenile-presentation-of-gm2-gangliosidosis-ab-in-a-patient-compound-heterozygote-for-c-259g%C3%A2-%C3%A2-t-and-c-164c%C3%A2-%C3%A2-t-mutations-in-the-gm2a-gene
#16
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R Morales, Grant A Mitchell, Alexey V Pshezhetsky
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28413125/transient-dysautonomia-in-an-acute-phase-of-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion
#17
Yuko Ichimiya, Noriyuki Kaku, Yasunari Sakai, Fumiya Yamashita, Wakato Matsuoka, Mamoru Muraoka, Satoshi Akamine, Soichi Mizuguchi, Michiko Torio, Yoshitomo Motomura, Yuichiro Hirata, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Hidetoshi Takada, Yoshihiko Maehara, Shouichi Ohga
Paroxysmal sympathetic hyperactivity (PSH) is a dysautonomic condition that is associated with various types of acquired brain injuries. Traumatic brain lesions have been documented as the leading cause of PSH. However, detailed clinical features of pediatric PSH caused by intrinsic brain lesions remain to be elusive. We present a 3-year-old boy, who had been diagnosed as having cerebral palsy, developmental delay and epilepsy after perinatal hypoxia-induced brain injury. He developed status epilepticus with fever on the third day of respiratory infection...
April 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28410084/clinical-and-electroencephalographic-characteristics-of-infantile-onset-epilepsies-caused-by-genetic-mutations
#18
Yun Jung Hur, Sookyong Koh, John Millichap, Srishti Nangia, Lawrence J Jennings, Douglas R Nordli
OBJECTIVES: To determine whether certain characteristic electroencephalography (EEG) features are indicative of a genetic cause in early-life epilepsy. STUDY DESIGN: We enrolled a total of 100 patients with infantile-onset (<3 years) epilepsy due to known genetic cause (n = 50) and nongenetic cause (acquired, structural, or unknown, n = 50). The genetic group was classified into synaptopathies, channelopathies, mTOR (mammalian target of rapamycin)-opathies, and chromosomal abnormalities...
May 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28407444/familial-18q12-2-deletion-supports-the-role-of-rna-binding-protein-celf4-in-autism-spectrum-disorders
#19
Rita Barone, Marco Fichera, Mariaclara De Grandi, Marta Battaglia, Valeria Lo Faro, Teresa Mattina, Renata Rizzo
Deletion of 18q12.2 is an increasingly recognized condition with a distinct neuropsychiatric phenotype. Twenty-two patients have been described with overlapping neurobehavioral disturbances including developmental delay, intellectual disability of variable degree, seizures, motor coordination disorder, behavioral/emotional disturbances, and autism spectrum disorders. The CUGBP Elav-like family member 4 (CELF4) gene at 18q12.2 encodes a RNA-binding protein that links to RNA subsets involved in pre- and postsynaptic neurotransmission including almost 30% of potential autism-related genes...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28391250/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b6-dependent-epilepsy
#20
Barbara Plecko, Markus Zweier, Anaïs Begemann, Deborah Mathis, Bernhard Schmitt, Pasquale Striano, Martina Baethmann, Stella Maria Vari, Francesca Beccaria, Federico Zara, Lisa M Crowther, Pascal Joset, Heinrich Sticht, Sorina Mihaela Papuc, Anita Rauch
Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently biallelic mutations in PROSC were shown to be a novel cause in five families. We identified four further unrelated patients harbouring a total of six different mutations, including four novel disease mutations. Vitamin B6 plasma profiles on pyridoxine did not enable the differentiation of patients with PROSC mutations...
April 8, 2017: Journal of Medical Genetics
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