Literature DB >> 25678871

HCN1 Gain-Of-Function Mutations - A New Cause of Epileptic Encephalopathy.

Annapurna Poduri.   

Abstract

Entities:  

Year:  2014        PMID： 25678871      PMCID： PMC4325594          DOI： 10.5698/1535-7597-14.6.348

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN： 1535-7511            Impact factor:   7.500


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  11 in total

1.  De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

Authors:  L Claes; J Del-Favero; B Ceulemans; L Lagae; C Van Broeckhoven; P De Jonghe
Journal:  Am J Hum Genet       Date:  2001-05-15       Impact factor: 11.025

2.  Genetic loss of HCN1 channels is exciting, but is it epileptic?

Authors:  Nicholas P Poolos
Journal:  Epilepsy Curr       Date:  2010-03       Impact factor: 7.500

3.  Targeted treatment of migrating partial seizures of infancy with quinidine.

Authors:  David Bearden; Alanna Strong; Jessica Ehnot; Marissa DiGiovine; Dennis Dlugos; Ethan M Goldberg
Journal:  Ann Neurol       Date:  2014-07-26       Impact factor: 10.422

4.  Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

Authors:  Christel Depienne; Delphine Bouteiller; Boris Keren; Emmanuel Cheuret; Karine Poirier; Oriane Trouillard; Baya Benyahia; Chloé Quelin; Wassila Carpentier; Sophie Julia; Alexandra Afenjar; Agnès Gautier; François Rivier; Sophie Meyer; Patrick Berquin; Marie Hélias; Isabelle Py; Serge Rivera; Nadia Bahi-Buisson; Isabelle Gourfinkel-An; Cécile Cazeneuve; Merle Ruberg; Alexis Brice; Rima Nabbout; Eric Leguern
Journal:  PLoS Genet       Date:  2009-02-13       Impact factor: 5.917

5.  De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

Authors:  Caroline Nava; Carine Dalle; Agnès Rastetter; Pasquale Striano; Carolien G F de Kovel; Rima Nabbout; Claude Cancès; Dorothée Ville; Eva H Brilstra; Giuseppe Gobbi; Emmanuel Raffo; Delphine Bouteiller; Yannick Marie; Oriane Trouillard; Angela Robbiano; Boris Keren; Dahbia Agher; Emmanuel Roze; Suzanne Lesage; Aude Nicolas; Alexis Brice; Michel Baulac; Cornelia Vogt; Nady El Hajj; Eberhard Schneider; Arvid Suls; Sarah Weckhuysen; Padhraig Gormley; Anna-Elina Lehesjoki; Peter De Jonghe; Ingo Helbig; Stéphanie Baulac; Federico Zara; Bobby P C Koeleman; Thomas Haaf; Eric LeGuern; Christel Depienne
Journal:  Nat Genet       Date:  2014-04-20       Impact factor: 38.330

6.  KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.

Authors:  Carol J Milligan; Melody Li; Elena V Gazina; Sarah E Heron; Umesh Nair; Chantel Trager; Christopher A Reid; Anu Venkat; Donald P Younkin; Dennis J Dlugos; Slavé Petrovski; David B Goldstein; Leanne M Dibbens; Ingrid E Scheffer; Samuel F Berkovic; Steven Petrou
Journal:  Ann Neurol       Date:  2014-04-14       Impact factor: 10.422

Review 7.  Genetic testing in the epilepsies-developments and dilemmas.

Authors:  Annapurna Poduri; Beth Rosen Sheidley; Sara Shostak; Ruth Ottman
Journal:  Nat Rev Neurol       Date:  2014-04-15       Impact factor: 42.937

8.  Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

Authors:  Krishna R Veeramah; Laurel Johnstone; Tatiana M Karafet; Daniel Wolf; Ryan Sprissler; John Salogiannis; Asa Barth-Maron; Michael E Greenberg; Till Stuhlmann; Stefanie Weinert; Thomas J Jentsch; Marjorie Pazzi; Linda L Restifo; Dinesh Talwar; Robert P Erickson; Michael F Hammer
Journal:  Epilepsia       Date:  2013-05-03       Impact factor: 5.864

9.  The Role of HCN Channels on Membrane Excitability in the Nervous System.

Authors:  Daisuke Kase; Keiji Imoto
Journal:  J Signal Transduct       Date:  2012-08-13

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
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  1 in total

1.  Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.

Authors:  Sanjiban Chakrabarty; Periyasamy Govindaraj; Bindu Parayil Sankaran; Madhu Nagappa; Shama Prasada Kabekkodu; Pradyumna Jayaram; Sandeep Mallya; Sekar Deepha; J N Jessiena Ponmalar; Hanumanthapura R Arivinda; Angamuthu Kanikannan Meena; Rajan Kumar Jha; Sanjib Sinha; Narayanappa Gayathri; Arun B Taly; Kumarasamy Thangaraj; Kapaettu Satyamoorthy
Journal:  J Neurol       Date:  2021-01-23       Impact factor: 4.849
  1 in total

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