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Literature DB >> 24094099

The sacred disease: the puzzling genetics of epileptic disorders.

Gaia Novarino¹, Seung Tae Baek, Joseph G Gleeson.

Abstract

In the September 12, 2013 issue of Nature, the Epi4K Consortium (Allen et al., 2013) reported sequencing 264 patient trios with epileptic encephalopathies. The Consortium focused on genes exceptionally intolerant to sequence variations and found substantial interconnections with autism and intellectual disability gene networks.

Entities: Chemical

Mesh：

Year: 2013 PMID： 24094099 PMCID： PMC3984878 DOI： 10.1016/j.neuron.2013.09.019

Source DB: PubMed Journal: Neuron ISSN： 0896-6273 Impact factor: 17.173

13 in total

1. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

Authors: Jeong Ho Lee; My Huynh; Jennifer L Silhavy; Sangwoo Kim; Tracy Dixon-Salazar; Andrew Heiberg; Eric Scott; Vineet Bafna; Kiley J Hill; Adrienne Collazo; Vincent Funari; Carsten Russ; Stacey B Gabriel; Gary W Mathern; Joseph G Gleeson
Journal: Nat Genet Date: 2012-06-24 Impact factor: 38.330

2. De novo gene disruptions in children on the autistic spectrum.

Authors: Ivan Iossifov; Michael Ronemus; Dan Levy; Zihua Wang; Inessa Hakker; Julie Rosenbaum; Boris Yamrom; Yoon-Ha Lee; Giuseppe Narzisi; Anthony Leotta; Jude Kendall; Ewa Grabowska; Beicong Ma; Steven Marks; Linda Rodgers; Asya Stepansky; Jennifer Troge; Peter Andrews; Mitchell Bekritsky; Kith Pradhan; Elena Ghiban; Melissa Kramer; Jennifer Parla; Ryan Demeter; Lucinda L Fulton; Robert S Fulton; Vincent J Magrini; Kenny Ye; Jennifer C Darnell; Robert B Darnell; Elaine R Mardis; Richard K Wilson; Michael C Schatz; W Richard McCombie; Michael Wigler
Journal: Neuron Date: 2012-04-26 Impact factor: 17.173

Review 3. Malformations of cortical development.

Authors: Eleonora Aronica; Albert J Becker; Roberto Spreafico
Journal: Brain Pathol Date: 2012-05 Impact factor: 6.508

4. Diagnostic exome sequencing in persons with severe intellectual disability.

Authors: Joep de Ligt; Marjolein H Willemsen; Bregje W M van Bon; Tjitske Kleefstra; Helger G Yntema; Thessa Kroes; Anneke T Vulto-van Silfhout; David A Koolen; Petra de Vries; Christian Gilissen; Marisol del Rosario; Alexander Hoischen; Hans Scheffer; Bert B A de Vries; Han G Brunner; Joris A Veltman; Lisenka E L M Vissers
Journal: N Engl J Med Date: 2012-10-03 Impact factor: 91.245

5. Using whole-exome sequencing to identify inherited causes of autism.

Authors: Timothy W Yu; Maria H Chahrour; Michael E Coulter; Sarn Jiralerspong; Kazuko Okamura-Ikeda; Bulent Ataman; Klaus Schmitz-Abe; David A Harmin; Mazhar Adli; Athar N Malik; Alissa M D'Gama; Elaine T Lim; Stephan J Sanders; Ganesh H Mochida; Jennifer N Partlow; Christine M Sunu; Jillian M Felie; Jacqueline Rodriguez; Ramzi H Nasir; Janice Ware; Robert M Joseph; R Sean Hill; Benjamin Y Kwan; Muna Al-Saffar; Nahit M Mukaddes; Asif Hashmi; Soher Balkhy; Generoso G Gascon; Fuki M Hisama; Elaine LeClair; Annapurna Poduri; Ozgur Oner; Samira Al-Saad; Sadika A Al-Awadi; Laila Bastaki; Tawfeg Ben-Omran; Ahmad S Teebi; Lihadh Al-Gazali; Valsamma Eapen; Christine R Stevens; Leonard Rappaport; Stacey B Gabriel; Kyriacos Markianos; Matthew W State; Michael E Greenberg; Hisaaki Taniguchi; Nancy E Braverman; Eric M Morrow; Christopher A Walsh
Journal: Neuron Date: 2013-01-23 Impact factor: 17.173

6. Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.

Authors: Yuki Hitomi; Erin L Heinzen; Simona Donatello; Hans-Henrik Dahl; John A Damiano; Jacinta M McMahon; Samuel F Berkovic; Ingrid E Scheffer; Benjamin Legros; Myriam Rai; Sarah Weckhuysen; Arvid Suls; Peter De Jonghe; Massimo Pandolfo; David B Goldstein; Patrick Van Bogaert; Chantal Depondt
Journal: Ann Neurol Date: 2013-09-04 Impact factor: 10.422

7. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Authors: Brian J O'Roak; Laura Vives; Santhosh Girirajan; Emre Karakoc; Niklas Krumm; Bradley P Coe; Roie Levy; Arthur Ko; Choli Lee; Joshua D Smith; Emily H Turner; Ian B Stanaway; Benjamin Vernot; Maika Malig; Carl Baker; Beau Reilly; Joshua M Akey; Elhanan Borenstein; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Jay Shendure; Evan E Eichler
Journal: Nature Date: 2012-04-04 Impact factor: 49.962

8. Genic intolerance to functional variation and the interpretation of personal genomes.

Authors: Slavé Petrovski; Quanli Wang; Erin L Heinzen; Andrew S Allen; David B Goldstein
Journal: PLoS Genet Date: 2013-08-22 Impact factor: 5.917

9. Rate of de novo mutations and the importance of father's age to disease risk.

Authors: Augustine Kong; Michael L Frigge; Gisli Masson; Soren Besenbacher; Patrick Sulem; Gisli Magnusson; Sigurjon A Gudjonsson; Asgeir Sigurdsson; Aslaug Jonasdottir; Adalbjorg Jonasdottir; Wendy S W Wong; Gunnar Sigurdsson; G Bragi Walters; Stacy Steinberg; Hannes Helgason; Gudmar Thorleifsson; Daniel F Gudbjartsson; Agnar Helgason; Olafur Th Magnusson; Unnur Thorsteinsdottir; Kari Stefansson
Journal: Nature Date: 2012-08-23 Impact factor: 49.962

10. De novo mutations in epileptic encephalopathies.

Authors: Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal: Nature Date: 2013-08-11 Impact factor: 49.962

4 in total

1. Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

Authors: Francesco Miceli; Maria Virginia Soldovieri; Paolo Ambrosino; Michela De Maria; Michele Migliore; Rosanna Migliore; Maurizio Taglialatela
Journal: J Neurosci Date: 2015-03-04 Impact factor: 6.167