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intellectual disability and epilepsy

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https://www.readbyqxmd.com/read/28746872/aberrant-proteostasis-of-bmal1%C3%A2-underlies-circadian-abnormalities-in-a-paradigmatic-mtor-opathy
#1
Jonathan O Lipton, Lara M Boyle, Elizabeth D Yuan, Kevin J Hochstrasser, Fortunate F Chifamba, Ashwin Nathan, Peter T Tsai, Fred Davis, Mustafa Sahin
Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder characterized by mutations in either the TSC1 or TSC2 genes, whose products form a critical inhibitor of the mechanistic target of rapamycin (mTOR). Loss of TSC1/2 gene function renders an mTOR-overactivated state. Clinically, TSC manifests with epilepsy, intellectual disability, autism, and sleep dysfunction. Here, we report that mouse models of TSC have abnormal circadian rhythms. We show that mTOR regulates the proteostasis of the core clock protein BMAL1, affecting its translation, degradation, and subcellular localization...
July 25, 2017: Cell Reports
https://www.readbyqxmd.com/read/28745802/progressive-subglottic-stenosis-in-a-child-with-pallister-killian-syndrome
#2
Tadashi Shiohama, Katsunori Fujii, Kenji Shimizu, Hirofumi Ohashi, Tomozumi Takatani, Nobuhiko Okamoto, Gen Nishimura, Mitsuhiro Kato, Naoki Shimojo
Pallister-Killian syndrome (PKS) is rare genetic disorder caused by tetrasomy 12p mosaicism with supernumerary isochromosome 12p that manifests with intellectual disability, craniofacial dysmorphism, and epilepsy. Although PKS presents as a multisystem morphological defect, respiratory system involvement is rare, except for diaphragmatic hernia. We are the first to report a case of PKS with progressive subglottic stenosis. Subglottic stenosis is a potentially lethal condition due to severe respiratory obstruction and difficult intubation; therefore, further accumulation of cases is required to assess the causal link between PKS and subglottic stenosis...
July 26, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28732254/going-down-the-tubes-impact-on-seizure-control-of-antiepileptic-medication-given-via-percutaneous-feeding-tubes
#3
REVIEW
Caryn Jory, Rohit Shankar, Katy Oak, Janina Oates, Mike Wilcock
BACKGROUND: Long-term feeding by percutaneous endoscopic gastrostomy tube (PEG) is uncommon but can present significant issues when both nutrition and medication have to be fed down the same tube. This is especially important in people with epilepsy where the dose and bioavailability of antiepileptic drugs are critical to maintain adequate seizure control. This group with long-term PEG tubes is particularly vulnerable and dependent on their carers to provide high standard of care. Indeed, approximately half of the people with long-term feeding tubes suffer from severe intellectual disability which requires careful coordination of all members of the multidisciplinary team...
July 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28730746/management-and-prevalence-of-long-term-conditions-in-primary-health-care-for-adults-with-intellectual-disabilities-compared-with-the-general-population-a-population-based-cohort-study
#4
Sally-Ann Cooper, Laura Hughes-McCormack, Nicola Greenlaw, Alex McConnachie, Linda Allan, Marion Baltzer, Laura McArthur, Angela Henderson, Craig Melville, Paula McSkimming, Jill Morrison
BACKGROUND: In the UK, general practitioners/family physicians receive pay for performance on management of long-term conditions, according to best-practice indicators. METHOD: Management of long-term conditions was compared between 721 adults with intellectual disabilities and the general population (n = 764,672). Prevalence of long-term conditions was determined, and associated factors were investigated via logistic regression analyses. RESULTS: Adults with intellectual disabilities received significantly poorer management of all long-term conditions on 38/57 (66...
July 20, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28721930/pharmacoresistant-epileptic-eyelid-twitching-in-a-child-with-a-mutation-in-syngap1
#5
Tetsuya Okazaki, Yoshiaki Saito, Rika Hiraiwa, Shinji Saitoh, Masachika Kai, Kaori Adachi, Yoko Nishimura, Eiji Nanba, Yoshihiro Maegaki
SYNGAP1 gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video-EEG, have not been reported. We report the case of a 4-year-old boy who developed recurrent epileptic eyelid twitching at 1 year and 5 months of age. Seizures gradually increased in frequency to more than 50 times per day and manifested with upward eye deviation, motion arrest, loss of consciousness, and eyelid twitching lasting for five seconds...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28713243/synaptic-interactome-mining-reveals-p140cap-as-a-new-hub-for-psd-proteins-involved-in-psychiatric-and-neurological-disorders
#6
Annalisa Alfieri, Oksana Sorokina, Annie Adrait, Costanza Angelini, Isabella Russo, Alessandro Morellato, Michela Matteoli, Elisabetta Menna, Elisabetta Boeri Erba, Colin McLean, J Douglas Armstrong, Ugo Ala, Joseph D Buxbaum, Alfredo Brusco, Yohann Couté, Silvia De Rubeis, Emilia Turco, Paola Defilippi
Altered synaptic function has been associated with neurological and psychiatric conditions including intellectual disability, schizophrenia and autism spectrum disorder (ASD). Amongst the recently discovered synaptic proteins is p140Cap, an adaptor that localizes at dendritic spines and regulates their maturation and physiology. We recently showed that p140Cap knockout mice have cognitive deficits, impaired long-term potentiation (LTP) and long-term depression (LTD), and immature, filopodia-like dendritic spines...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28709814/the-therapeutic-implication-of-a-novel-scn2a-mutation-associated-early-onset-epileptic-encephalopathy-with-rett-like-features
#7
Jao-Shwann Liang, Li-Ju Lin, Ming-Tao Yang, Jinn-Shyan Wang, Jyh-Feng Lu
Epileptic encephalopathies are highly heterogeneous and phenotypical disorders with different underlying genetic defects. Mutations in the SCN2A gene cause different epilepsy syndromes, including epilepsy of infancy with migrating focal seizures, Ohtahara syndrome, and West syndrome. We utilized a targeted next generation sequencing (NGS) approach on a girl with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea, and profound intellectual disability, to identify novel missense mutation (c...
July 11, 2017: Brain & Development
https://www.readbyqxmd.com/read/28687527/the-first-patient-with-sporadic-x-linked-intellectual-disability-with-de-novo-zdhhc9-mutation-identified-by-targeted-next-generation-sequencing
#8
Ji Yoon Han, In Goo Lee, Soyoung Shin, Myungshin Kim, Ja Hyun Jang, Joonhong Park
X-linked intellectual disability (XLID) is a genetically heterogeneous disorder involving more than 100 genes known to date. Here, we describe a Korean male infant with global developmental delay. He had neither facial dysmorphism nor skeletal abnormalities. Bayley scale of infant and toddler development third edition (Bayley-III) measured at age of 2 years revealed marked global developmental delays without Marfanoid habitus, structural brain abnormalities, or epilepsy. The patient's cognitive, motor, and language developmental ages were 8-9 months, 12 months, and 9 months, respectively...
July 4, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28681381/epilepsy-transition-from-pediatric-to-adult-care-recommendations-of-the-ontario-epilepsy-implementation-task-force
#9
REVIEW
Danielle M Andrade, Anne S Bassett, Eduard Bercovici, Felippe Borlot, Esther Bui, Peter Camfield, Guida Quaglia Clozza, Eyal Cohen, Timothy Gofine, Lisa Graves, Jon Greenaway, Beverly Guttman, Maya Guttman-Slater, Ayman Hassan, Megan Henze, Miriam Kaufman, Bernard Lawless, Hannah Lee, Lezlee Lindzon, Lysa Boissé Lomax, Mary Pat McAndrews, Dolly Menna-Dack, Berge A Minassian, Janice Mulligan, Rima Nabbout, Tracy Nejm, Mary Secco, Laurene Sellers, Michelle Shapiro, Marie Slegr, Rosie Smith, Peter Szatmari, Leeping Tao, Anastasia Vogt, Sharon Whiting, O Carter Snead
The transition from a pediatric to adult health care system is challenging for many youths with epilepsy and their families. Recently, the Ministry of Health and Long-Term Care of the Province of Ontario, Canada, created a transition working group (TWG) to develop recommendations for the transition process for patients with epilepsy in the Province of Ontario. Herein we present an executive summary of this work. The TWG was composed of a multidisciplinary group of pediatric and adult epileptologists, psychiatrists, and family doctors from academia and from the community; neurologists from the community; nurses and social workers from pediatric and adult epilepsy programs; adolescent medicine physician specialists; a team of physicians, nurses, and social workers dedicated to patients with complex care needs; a lawyer; an occupational therapist; representatives from community epilepsy agencies; patients with epilepsy; parents of patients with epilepsy and severe intellectual disability; and project managers...
July 6, 2017: Epilepsia
https://www.readbyqxmd.com/read/28673533/successful-corpus-callosotomy-for-doose-syndrome
#10
Sotaro Kanai, Tohru Okanishi, Mitsuyo Nishimura, Kentaro Iijima, Takuya Yokota, Tomohiro Yamazoe, Ayataka Fujimoto, Hideo Enoki, Takamichi Yamamoto
Doose syndrome (epilepsy with myoclonic-atonic seizures) is an epilepsy syndrome with an incidence of approximately 1-2% of childhood-onset epilepsies. Although this syndrome is associated with multiple types of generalized seizures, the diagnosis is based on the presence of myoclonic-atonic seizures. Eighteen percent of patients have refractory seizures and intellectual disabilities. There have, however, been a few reports on the efficacy of surgical treatment for Doose syndrome. We describe a case of Doose syndrome in a 10-year-old boy...
June 30, 2017: Brain & Development
https://www.readbyqxmd.com/read/28671982/clinical-services-for-adults-with-an-intellectual-disability-and-epilepsy-a-comparison-of-management-alternatives
#11
Adam P Wagner, Tim J Croudace, Naomi Bateman, Mark W Pennington, Elizabeth Prince, Marcus Redley, Simon R White, Howard Ring
BACKGROUND: Intellectual disability (ID) is relatively common in people with epilepsy, with prevalence estimated to be around 25%. Surprisingly, given this relatively high frequency, along with higher rates of refractory epilepsy than in those without ID, little is known about outcomes of different management approaches/clinical services treating epilepsy in adults with ID-we investigate this area. MATERIALS & METHODS: We undertook a naturalistic observational cohort study measuring outcomes in n = 91 adults with ID over a 7-month period (recruited within the period March 2008 to April 2010)...
2017: PloS One
https://www.readbyqxmd.com/read/28669405/loss-of-function-and-gain-of-function-mutations-in-kcnq5-cause-intellectual-disability-or-epileptic-encephalopathy
#12
Anna Lehman, Samrat Thouta, Grazia M S Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B McKenzie, Anita Datta, Mary B Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M Friedman, Matthew J Farrer, Michelle Demos, Sonal Desai, Thomas Claydon
KCNQ5 is a highly conserved gene encoding an important channel for neuronal function; it is widely expressed in the brain and generates M-type current. Exome sequencing identified de novo heterozygous missense mutations in four probands with intellectual disability, abnormal neurological findings, and treatment-resistant epilepsy (in two of four). Comprehensive analysis of this potassium channel for the four variants expressed in frog oocytes revealed shifts in the voltage dependence of activation, including altered activation and deactivation kinetics...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28669061/male-patients-affected-by-mosaic-pcdh19-mutations-five-new-cases
#13
I M de Lange, P Rump, R F Neuteboom, P B Augustijn, K Hodges, A I Kistemaker, O F Brouwer, G M S Mancini, H A Newman, Y J Vos, K L Helbig, C Peeters-Scholte, M Kriek, N V Knoers, D Lindhout, B P C Koeleman, M J A van Kempen, E H Brilstra
Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mechanism named cellular interference. Until now, only four affected mosaic male patients have been described in literature. Here, we report five additional male patients, of which four are older than the oldest patient reported so far. All reported patients were selected for genetic testing because of developmental delay and/or epilepsy...
July 1, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28667575/animal-and-cellular-models-of-familial-dysautonomia
#14
REVIEW
Frances Lefcort, Marc Mergy, Sarah B Ohlen, Yumi Ueki, Lynn George
Since Riley and Day first described the clinical phenotype of patients with familial dysautonomia (FD) over 60 years ago, the field has made considerable progress clinically, scientifically, and translationally in treating and understanding the etiology of FD. FD is classified as a hereditary sensory and autonomic neuropathy (HSAN type III) and is both a developmental and a progressive neurodegenerative condition that results from an autosomal recessive mutation in the gene IKBKAP, also known as ELP1. FD primarily impacts the peripheral nervous system but also manifests in central nervous system disruption, especially in the retina and optic nerve...
June 30, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28667181/dnm1-encephalopathy-a-new-disease-of-vesicle-fission
#15
Sarah von Spiczak, Katherine L Helbig, Deepali N Shinde, Robert Huether, Manuela Pendziwiat, Charles Lourenço, Mark E Nunes, Dean P Sarco, Richard A Kaplan, Dennis J Dlugos, Heidi Kirsch, Anne Slavotinek, Maria R Cilio, Mackenzie C Cervenka, Julie S Cohen, Rebecca McClellan, Ali Fatemi, Amy Yuen, Yoshimi Sagawa, Rebecca Littlejohn, Scott D McLean, Laura Hernandez-Hernandez, Bridget Maher, Rikke S Møller, Elizabeth Palmer, John A Lawson, Colleen A Campbell, Charuta N Joshi, Diana L Kolbe, Georgie Hollingsworth, Bernd A Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingrid E Scheffer, Sérgio D J Pena, Sanjay M Sisodiya, Ingo Helbig
OBJECTIVE: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. METHODS: We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function...
June 30, 2017: Neurology
https://www.readbyqxmd.com/read/28664561/a-prospective-20-year-longitudinal-follow-up-of-dementia-in-persons-with-down-syndrome
#16
M McCarron, P McCallion, E Reilly, P Dunne, R Carroll, N Mulryan
GOAL: To examine dementia characteristics, age at onset and associated co-morbidities in persons with Down syndrome. METHOD: A total of 77 people with Down syndrome aged 35 years and older were followed up from 1996 to 2015. The diagnosis of dementia was established using the modified ICD 10 Criteria and a combination of objective and informant-based tests. Cognitive tests included the Test for Severe Impairment and the Down Syndrome Mental Status Examination; adaptive behaviour was measured using the Daily Living Skills Questionnaire, and data from the Dementia Questionnaire for People with Intellectual Disabilities have been available since 2005...
June 29, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28663785/case-report-novel-mutations-in-tbc1d24-are-associated-with-autosomal-dominant-tonic-clonic-and-myoclonic-epilepsy-and-recessive-parkinsonism-psychosis-and-intellectual-disability
#17
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M Claasen, Sampathkumar Rangasamy, Matthew J Huentelman, David W Craig, Philippe M Campeau, Vinodh Narayanan, Isabelle Schrauwen
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describe a family segregating autosomal dominant epilepsy, and a 37-year-old Caucasian female with a severe neurological phenotype including epilepsy, Parkinsonism, psychosis, visual and auditory hallucinations, gait ataxia and intellectual disability. Whole exome sequencing revealed two missense mutations in the TBC1D24 gene segregating within this family (c...
2017: F1000Research
https://www.readbyqxmd.com/read/28663780/new-insights-into-the-pathogenesis-and-prevention-of-tuberous-sclerosis-associated-neuropsychiatric-disorders-tand
#18
REVIEW
Tanjala T Gipson, Michael V Johnston
Tuberous sclerosis complex (TSC) is a multi-system disorder resulting from mutations in either the TSC1 or TSC2 genes leading to hyperactivation of mechanistic target of rapamycin (mTOR) signaling. TSC is commonly associated with autism (61%), intellectual disability (45%), and behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties that are collectively referred to as TSC-associated neuropsychiatric disorders (TAND). More than 90% of children with TSC have epilepsy, including infantile spasms, and early onset of seizures, especially infantile spasms, is associated with greater impairment in intellectual development compared with individuals with TSC without seizures...
2017: F1000Research
https://www.readbyqxmd.com/read/28658885/psychosis-in-a-case-of-dandy-walker-syndrome-a-case-report
#19
Ripu Daman Dawra, Sagar Karia, Nilesh Shah, Avinash Desousa
Dandy Walker Syndrome (DWS) is a congenital malformation with brain abnormalities, intellectual disabilities, epilepsy and visible structural changes in particular brain structures. We present here a case of psychosis in an 18-year-old male with DWS, epilepsy and intellectual disability. The purpose of this paper is to discuss the clinically relevant issues, psychopharmacological issues, neuropsychiatric manifestations and consultation liaison issues involved.
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28650581/deficiency-of-wars2-encoding-mitochondrial-tryptophanyl-trna-synthetase-causes-severe-infantile-onset-leukoencephalopathy
#20
Benjamin E Theisen, Anastasia Rumyantseva, Julie S Cohen, Wendy A Alcaraz, Deepali N Shinde, Sha Tang, Siddarth Srivastava, Jonathan Pevsner, Aleksandra Trifunovic, Ali Fatemi
Pathogenic variants in the mitochondrial aminoacyl tRNA synthetases lead to deficiencies in mitochondrial protein synthesis and are associated with a broad range of clinical presentations usually with early onset and inherited in an autosomal recessive manner. Of the 19 mitochondrial aminoacyl tRNA synthetases, WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, was as of late the only one that had not been associated with disease in humans. A case of a family with pathogenic variants in WARS2 that caused mainly intellectual disability, speech impairment, aggressiveness, and athetosis was recently reported...
June 26, 2017: American Journal of Medical Genetics. Part A
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