Literature DB >> 30107960

Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.

Dillon Y Chen1, Shimul Chowdhury2, Lauge Farnaes3, Jennifer R Friedman4, Jose Honold5, David P Dimmock2, On Behalf Of The Rcigm Investigators Jeffrey J Gold6.   

Abstract

Entities:  

Keywords:  EIEE; Health care efficiency; KCNQ-2; Ohtahara syndrome; Rapid whole genome sequencing

Mesh：

Substances：

Year:  2018        PMID： 30107960      PMCID： PMC6824418          DOI： 10.1016/j.pediatrneurol.2018.06.002

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  6 in total

Review 1.  Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy.

Authors:  Jules C Beal; Koshi Cherian; Solomon L Moshe
Journal:  Pediatr Neurol       Date:  2012-11       Impact factor: 3.372

2.  Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

Authors:  Mitsuhiro Kato; Takanori Yamagata; Masaya Kubota; Hiroshi Arai; Sumimasa Yamashita; Taku Nakagawa; Takanari Fujii; Kenji Sugai; Kaoru Imai; Tami Uster; David Chitayat; Shelly Weiss; Hirofumi Kashii; Ryosuke Kusano; Ayumi Matsumoto; Kazuyuki Nakamura; Yoshinobu Oyazato; Mari Maeno; Kiyomi Nishiyama; Hirofumi Kodera; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Kayoko Saito; Kiyoshi Hayasaka; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  Epilepsia       Date:  2013-04-26       Impact factor: 5.864

3.  Early and effective treatment of KCNQ2 encephalopathy.

Authors:  Tiziana Pisano; Adam L Numis; Sinéad B Heavin; Sarah Weckhuysen; Marco Angriman; Arvid Suls; Barbara Podesta; Ronald L Thibert; Kevin A Shapiro; Renzo Guerrini; Ingrid E Scheffer; Carla Marini; Maria Roberta Cilio
Journal:  Epilepsia       Date:  2015-04-16       Impact factor: 5.864

4.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

5.  Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

Authors:  Sarah Weckhuysen; Vanja Ivanovic; Rik Hendrickx; Rudy Van Coster; Helle Hjalgrim; Rikke S Møller; Sabine Grønborg; An-Sofie Schoonjans; Berten Ceulemans; Sinead B Heavin; Christin Eltze; Rita Horvath; Gianluca Casara; Tiziana Pisano; Lucio Giordano; Kevin Rostasy; Edda Haberlandt; Beate Albrecht; Andrea Bevot; Ira Benkel; Steffan Syrbe; Beth Sheidley; Renzo Guerrini; Annapurna Poduri; Johannes R Lemke; Simone Mandelstam; Ingrid Scheffer; Marco Angriman; Pasquale Striano; Carla Marini; Arvid Suls; Peter De Jonghe
Journal:  Neurology       Date:  2013-10-09       Impact factor: 9.910

6.  Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Authors:  Mathieu Milh; Nadia Boutry-Kryza; Julie Sutera-Sardo; Cyril Mignot; Stéphane Auvin; Caroline Lacoste; Nathalie Villeneuve; Agathe Roubertie; Bénédicte Heron; Maryline Carneiro; Anna Kaminska; Cécilia Altuzarra; Gaëlle Blanchard; Dorothée Ville; Marie Anne Barthez; Delphine Heron; Domitille Gras; Alexandra Afenjar; Nathalie Dorison; Dianne Doummar; Thierry Billette de Villemeur; Isabelle An; Aurélia Jacquette; Perrine Charles; Julie Perrier; Bertrand Isidor; Laurent Vercueil; Brigitte Chabrol; Catherine Badens; Gaétan Lesca; Laurent Villard
Journal:  Orphanet J Rare Dis       Date:  2013-05-22       Impact factor: 4.123
  6 in total
  10 in total

1.  Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing.

Authors:  Stephen F Kingsmore; Audrey Henderson; Mallory J Owen; Michelle M Clark; Christian Hansen; David Dimmock; Christina D Chambers; Laura L Jeliffe-Pawlowski; Charlotte Hobbs
Journal:  NPJ Genom Med       Date:  2020-11-02       Impact factor: 8.617

2.  A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

Authors:  Stephen F Kingsmore; Julie A Cakici; Michelle M Clark; Mary Gaughran; Michele Feddock; Sergey Batalov; Matthew N Bainbridge; Jeanne Carroll; Sara A Caylor; Christina Clarke; Yan Ding; Katarzyna Ellsworth; Lauge Farnaes; Amber Hildreth; Charlotte Hobbs; Kiely James; Cyrielle I Kint; Jerica Lenberg; Shareef Nahas; Lance Prince; Iris Reyes; Lisa Salz; Erica Sanford; Peter Schols; Nathaly Sweeney; Mari Tokita; Narayanan Veeraraghavan; Kelly Watkins; Kristen Wigby; Terence Wong; Shimul Chowdhury; Meredith S Wright; David Dimmock
Journal:  Am J Hum Genet       Date:  2019-09-26       Impact factor: 11.025

3.  Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication.

Authors:  Takuya Masuda; Hitoshi Osaka; Naomi Tsuchida; Satoko Miyatake; Kou Nishimura; Toshiki Takenouchi; Takao Takahashi; Naomichi Matsumoto; Takanori Yamagata
Journal:  Epilepsy Behav Rep       Date:  2022-04-25

4.  Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.

Authors:  Michelle M Clark; Amber Hildreth; Sergey Batalov; Yan Ding; Shimul Chowdhury; Kelly Watkins; Katarzyna Ellsworth; Brandon Camp; Cyrielle I Kint; Calum Yacoubian; Lauge Farnaes; Matthew N Bainbridge; Curtis Beebe; Joshua J A Braun; Margaret Bray; Jeanne Carroll; Julie A Cakici; Sara A Caylor; Christina Clarke; Mitchell P Creed; Jennifer Friedman; Alison Frith; Richard Gain; Mary Gaughran; Shauna George; Sheldon Gilmer; Joseph Gleeson; Jeremy Gore; Haiying Grunenwald; Raymond L Hovey; Marie L Janes; Kejia Lin; Paul D McDonagh; Kyle McBride; Patrick Mulrooney; Shareef Nahas; Daeheon Oh; Albert Oriol; Laura Puckett; Zia Rady; Martin G Reese; Julie Ryu; Lisa Salz; Erica Sanford; Lawrence Stewart; Nathaly Sweeney; Mari Tokita; Luca Van Der Kraan; Sarah White; Kristen Wigby; Brett Williams; Terence Wong; Meredith S Wright; Catherine Yamada; Peter Schols; John Reynders; Kevin Hall; David Dimmock; Narayanan Veeraraghavan; Thomas Defay; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2019-04-24       Impact factor: 19.319

5.  KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series.

Authors:  Inn-Chi Lee; Tung-Ming Chang; Jao-Shwann Liang; Shuan-Yow Li
Journal:  Mol Genet Genomic Med       Date:  2019-06-14       Impact factor: 2.183

6.  KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.

Authors:  Inn-Chi Lee; Jiann-Jou Yang; Ying-Ming Liou; Swee-Hee Wong
Journal:  Cells       Date:  2022-03-05       Impact factor: 6.600

7.  Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.

Authors:  Thomas J Nicholas; Najla Al-Sweel; Andrew Farrell; Rong Mao; Pinar Bayrak-Toydemir; Christine E Miller; Dawn Bentley; Rachel Palmquist; Barry Moore; Edgar J Hernandez; Michael J Cormier; Eric Fredrickson; Katherine Noble; Shawn Rynearson; Carson Holt; Mary Anne Karren; Joshua L Bonkowsky; Martin Tristani-Firouzi; Mark Yandell; Gabor Marth; Aaron R Quinlan; Luca Brunelli; Reha M Toydemir; Brian J Shayota; John C Carey; Steven E Boyden; Sabrina Malone Jenkins
Journal:  Mol Genet Genomic Med       Date:  2022-02-04       Impact factor: 2.183

8.  Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing.

Authors:  Stephen F Kingsmore; Audrey Henderson; Mallory J Owen; Michelle M Clark; Christian Hansen; David Dimmock; Christina D Chambers; Laura L Jeliffe-Pawlowski; Charlotte Hobbs
Journal:  NPJ Genom Med       Date:  2020-11-02       Impact factor: 8.617

9.  Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes.

Authors:  Inn-Chi Lee; Jiann-Jou Yang; Swee-Hee Wong; Ying-Ming Liou; Shuan-Yow Li
Journal:  Sci Rep       Date:  2020-08-07       Impact factor: 4.379

Review 10.  Treatment of Focal-Onset Seizures in Children: Should This Be More Etiology-Driven?

Authors:  Alec Aeby; Berten Ceulemans; Lieven Lagae
Journal:  Front Neurol       Date:  2022-03-07       Impact factor: 4.003
  10 in total

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