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Literature DB >> 25900226

Autism spectrum disorder and epilepsy: Disorders with a shared biology.

Bo Hoon Lee¹, Tristram Smith², Alex R Paciorkowski³.

Abstract

There is an increasing recognition of clinical overlap in patients presenting with epilepsy and autism spectrum disorder (ASD), and a great deal of new information regarding the genetic causes of both disorders is available. Several biological pathways appear to be involved in both disease processes, including gene transcription regulation, cellular growth, synaptic channel function, and maintenance of synaptic structure. We review several genetic disorders where ASD and epilepsy frequently co-occur, and we discuss the screening tools available for practicing neurologists and epileptologists to help determine which patients should be referred for formal ASD diagnostic evaluation. Finally, we make recommendations regarding the workflow of genetic diagnostic testing available for children with both ASD and epilepsy. This article is part of a Special Issue entitled "Autism and Epilepsy".

Entities: CellLine Chemical Disease Gene Mutation Species

Keywords: Autism; Autism spectrum disorder; Epilepsy; Genetic testing

Mesh：

Year: 2015 PMID： 25900226 PMCID： PMC4475437 DOI： 10.1016/j.yebeh.2015.03.017

Source DB: PubMed Journal: Epilepsy Behav ISSN： 1525-5050 Impact factor: 2.937

195 in total

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Journal: Epilepsy Behav Date: 2011-11-17 Impact factor: 2.937

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10. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Authors: Dalila Pinto; Elsa Delaby; Daniele Merico; Mafalda Barbosa; Alison Merikangas; Lambertus Klei; Bhooma Thiruvahindrapuram; Xiao Xu; Robert Ziman; Zhuozhi Wang; Jacob A S Vorstman; Ann Thompson; Regina Regan; Marion Pilorge; Giovanna Pellecchia; Alistair T Pagnamenta; Bárbara Oliveira; Christian R Marshall; Tiago R Magalhaes; Jennifer K Lowe; Jennifer L Howe; Anthony J Griswold; John Gilbert; Eftichia Duketis; Beth A Dombroski; Maretha V De Jonge; Michael Cuccaro; Emily L Crawford; Catarina T Correia; Judith Conroy; Inês C Conceição; Andreas G Chiocchetti; Jillian P Casey; Guiqing Cai; Christelle Cabrol; Nadia Bolshakova; Elena Bacchelli; Richard Anney; Steven Gallinger; Michelle Cotterchio; Graham Casey; Lonnie Zwaigenbaum; Kerstin Wittemeyer; Kirsty Wing; Simon Wallace; Herman van Engeland; Ana Tryfon; Susanne Thomson; Latha Soorya; Bernadette Rogé; Wendy Roberts; Fritz Poustka; Susana Mouga; Nancy Minshew; L Alison McInnes; Susan G McGrew; Catherine Lord; Marion Leboyer; Ann S Le Couteur; Alexander Kolevzon; Patricia Jiménez González; Suma Jacob; Richard Holt; Stephen Guter; Jonathan Green; Andrew Green; Christopher Gillberg; Bridget A Fernandez; Frederico Duque; Richard Delorme; Geraldine Dawson; Pauline Chaste; Cátia Café; Sean Brennan; Thomas Bourgeron; Patrick F Bolton; Sven Bölte; Raphael Bernier; Gillian Baird; Anthony J Bailey; Evdokia Anagnostou; Joana Almeida; Ellen M Wijsman; Veronica J Vieland; Astrid M Vicente; Gerard D Schellenberg; Margaret Pericak-Vance; Andrew D Paterson; Jeremy R Parr; Guiomar Oliveira; John I Nurnberger; Anthony P Monaco; Elena Maestrini; Sabine M Klauck; Hakon Hakonarson; Jonathan L Haines; Daniel H Geschwind; Christine M Freitag; Susan E Folstein; Sean Ennis; Hilary Coon; Agatino Battaglia; Peter Szatmari; James S Sutcliffe; Joachim Hallmayer; Michael Gill; Edwin H Cook; Joseph D Buxbaum; Bernie Devlin; Louise Gallagher; Catalina Betancur; Stephen W Scherer
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43 in total

1. Using phecode analysis to characterize co-occurring medical conditions in autism spectrum disorder.

Authors: Michelle D Failla; Kyle L Schwartz; Shikha Chaganti; Laurie E Cutting; Bennett A Landman; Carissa J Cascio
Journal: Autism Date: 2020-07-14

2. Enhanced Social Dominance and Altered Neuronal Excitability in the Prefrontal Cortex of Male KCC2b Mutant Mice.

Authors: Allison M J Anacker; Jacqueline T Moran; Sara Santarelli; C Gunnar Forsberg; Tiffany D Rogers; Gregg D Stanwood; Benjamin J Hall; Eric Delpire; Jeremy Veenstra-VanderWeele; Michael D Saxe
Journal: Autism Res Date: 2019-04-12 Impact factor: 5.216

3. Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

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4. The Genetic Control of Stoichiometry Underlying Autism.

Authors: Robert B Darnell
Journal: Annu Rev Neurosci Date: 2020-07-08 Impact factor: 12.449

5. An Unbiased Drug Screen for Seizure Suppressors in Duplication 15q Syndrome Reveals 5-HT_1A and Dopamine Pathway Activation as Potential Therapies.

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6. Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.

Authors: Walter E Kaufmann; Sharon A Kidd; Howard F Andrews; Dejan B Budimirovic; Amy Esler; Barbara Haas-Givler; Tracy Stackhouse; Catharine Riley; Georgina Peacock; Stephanie L Sherman; W Ted Brown; Elizabeth Berry-Kravis
Journal: Pediatrics Date: 2017-06 Impact factor: 7.124