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The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield

• Authors : Ingrid Scheffer; Colleen Campbell; Samuel Berkovic ...

Subjects: 0301 basic medicine; Adult; Male

• Source: EpilepsiaEpilepsia, Vol. 60, no.5, p. 797-806 (2019)

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Epilepsy Genetics: What Once Was Rare, Is Now Common

• Authors : Gemma L. Carvill; Jeffrey D. Calhoun

Subjects: 0301 basic medicine; Genetics; business.industry

• Source: Epilepsy Currents

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Incorporating epilepsy genetics into clinical practice: a 360°evaluation

• Authors : Ruth Williams; Rikke S. Møller; Hans Atli Dahl

Subjects: 0301 basic medicine; Pediatrics; medicine.medical_specialty

• Source: NPJ Genomic MedicineOates, S, Tang, S, Rosch, R, Lear, R, Hughes, E F, Williams, R E, Larsen, L H G, Hao, Q, Dahl, H A, Møller, R S & Pal, D K 2018, ' Incorporating

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Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?

• Authors : Charles R. Newton; Symon M. Kariuki; Gemma L. Carvill

Subjects: 0301 basic medicine; sub-Saharan Africa; Traumatic brain injury

• Source: Frontiers in NeurologyFrontiers in Neurology, Vol 9 (2018)

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A Model Program for Translational Medicine in Epilepsy Genetics

• Authors : Gessica Truglio; Christelle Moufawad El Achkar; Heather E. Olson

Subjects: 0301 basic medicine; Male; DNA sequencing

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Primer Part 1-The building blocks of epilepsy genetics

• Authors : Erin L. Heinzen; Heather C Mefford; Ingo Helbig

Subjects: 0301 basic medicine; Population; Genomics

• Source: Epilepsia. 57(6)

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Attitudes toward Epilepsy Genetics Testing among Adult and Pediatric Epileptologists—Results of a Q-PULSE Survey

• Authors : Ingo Helbig; Lindsay Ferraro; John R. Pollard

Subjects: 0301 basic medicine; Genetics; Candidate gene

• Source: Epilepsy Currents. 16:46-47

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Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy

• Authors : Guido Rubboli; Michael Bayat; Allan Bayat

Subjects: 0301 basic medicine; Pediatrics; medicine.medical_specialty

• Source: Bayat, A, Bayat, M, Rubboli, G & Møller, R S 2021, ' Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy ', Genes, vol.

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The spectrum of intermediate SCN8A-related epilepsy

• Authors : Marialuisa Valente; Christina Fenger; Lucio Giordano ...

Subjects: 0301 basic medicine; Proband; Pediatrics

• Source: Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A-E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A,

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Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

• Authors : Leanne M. Dibbens; Anna-Elina Lehesjoki; Roberto Michelucci ...

Subjects: 0301 basic medicine; Male; Glycosylation

• Source: Am J Hum Genet

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