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Literature DB >> 21836823

Genetic testing in epilepsy: what should you be doing?

Abstract

With the burgeoning array of molecular tests available in the epilepsies, the clinician needs to know which tests to order for each patient. Epileptic encephalopathies are the most important clinical group for genetic testing with an increasing number of distinctive epilepsy syndromes being recognized. Identification of the causative mutation affects treatment as well as prognostic and genetic counseling.

Entities: Disease Species

Year: 2011 PMID： 21836823 PMCID： PMC3152152 DOI： 10.5698/1535-7511-11.4.107

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

40 in total

1. Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Authors: Volker Endris; Karl Hackmann; Teresa M Neuhann; Ute Grasshoff; Michael Bonin; Ulrich Haug; Gabriele Hahn; Jens C Schallner; Evelin Schröck; Sigrid Tinschert; Gudrun Rappold; Ute Moog
Journal: Am J Med Genet A Date: 2010-11 Impact factor: 2.802

2. A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence.

Authors: K M Klein; S C Yendle; A S Harvey; J H Antony; G Wallace; T Bienvenu; I E Scheffer
Journal: Neurology Date: 2011-04-19 Impact factor: 9.910

3. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Authors: Petter Strømme; Marie E Mangelsdorf; Marie A Shaw; Karen M Lower; Suzanne M E Lewis; Helene Bruyere; Viggo Lütcherath; Agi K Gedeon; Robyn H Wallace; Ingrid E Scheffer; Gillian Turner; Michael Partington; Suzanna G M Frints; Jean-Pierre Fryns; Grant R Sutherland; John C Mulley; Jozef Gécz
Journal: Nat Genet Date: 2002-03-11 Impact factor: 38.330

4. Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

Authors: Nicola Specchio; Carla Marini; Alessandra Terracciano; Davide Mei; Marina Trivisano; Federico Sicca; Lucia Fusco; Raffaella Cusmai; Francesca Darra; Bernardo Dalla Bernardina; Enrico Bertini; Renzo Guerrini; Federico Vigevano
Journal: Epilepsia Date: 2011-04-11 Impact factor: 5.864

5. Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.

Authors: Manju A Kurian; Esther Meyer; Grace Vassallo; Neil V Morgan; Nandhini Prakash; Shanaz Pasha; Nebula A Hai; Salwati Shuib; Fatima Rahman; Evangeline Wassmer; J Helen Cross; Finbar J O'Callaghan; John P Osborne; Ingrid E Scheffer; Paul Gissen; Eamonn R Maher
Journal: Brain Date: 2010-09-09 Impact factor: 13.501

Review 6. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors: David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal: Am J Hum Genet Date: 2010-05-14 Impact factor: 11.025

Review 7. Navigating the channels and beyond: unravelling the genetics of the epilepsies.

Authors: Ingo Helbig; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic
Journal: Lancet Neurol Date: 2008-03 Impact factor: 44.182

Review 8. Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse.

Authors: Saul A Mullen; Ingrid E Scheffer
Journal: Arch Neurol Date: 2009-01

9. The spectrum of SCN1A-related infantile epileptic encephalopathies.

Authors: Louise A Harkin; Jacinta M McMahon; Xenia Iona; Leanne Dibbens; James T Pelekanos; Sameer M Zuberi; Lynette G Sadleir; Eva Andermann; Deepak Gill; Kevin Farrell; Mary Connolly; Thorsten Stanley; Michael Harbord; Frederick Andermann; Jing Wang; Sat Dev Batish; Jeffrey G Jones; William K Seltzer; Alison Gardner; Grant Sutherland; Samuel F Berkovic; John C Mulley; Ingrid E Scheffer
Journal: Brain Date: 2007-03 Impact factor: 13.501

10. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

Authors: Arvid Suls; Peter Dedeken; Karolien Goffin; Hilde Van Esch; Patrick Dupont; David Cassiman; Judith Kempfle; Thomas V Wuttke; Yvonne Weber; Holger Lerche; Zaid Afawi; Wim Vandenberghe; Amos D Korczyn; Samuel F Berkovic; Dana Ekstein; Sara Kivity; Philippe Ryvlin; Lieve R F Claes; Liesbet Deprez; Snezana Maljevic; Alberto Vargas; Tine Van Dyck; Dirk Goossens; Jurgen Del-Favero; Koen Van Laere; Peter De Jonghe; Wim Van Paesschen
Journal: Brain Date: 2008-06-24 Impact factor: 13.501

14 in total

Genetic testing in epilepsy: what should you be doing?

1. Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

2. A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence.

3. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

4. Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

5. Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.

Review 6. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Review 7. Navigating the channels and beyond: unravelling the genetics of the epilepsies.

Review 8. Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse.

9. The spectrum of SCN1A-related infantile epileptic encephalopathies.

10. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

1. Genotype & Phenotype of Ohtahara Syndrome-What's SCN2A Got to Do With It? A Clinician's Read.

Review 2. Seizures and X-linked intellectual disability.

Review 3. Epilepsy and autism: is there a special relationship?

4. Genetic testing preferences in families containing multiple individuals with epilepsy.

5. Attitudes Toward Epilepsy Genetics Testing Among Adult and Pediatric Epileptologists-Results of a Q-PULSE Survey.

6. Alphabet Soup: Recurrent De Novo Mutations in Novel Genes Causing Developmental and Epileptic Encephalopathies.

7. Parents' interest in genetic testing of their offspring in multiplex epilepsy families.

Review 8. Genetic testing in the epilepsies-developments and dilemmas.

Review 9. Genomic biomarkers of SUDEP in brain and heart.

10. Precision medicine is here, break out your wallet.