Genetics of Epilepsies -

Genetics of Epilepsies

Special Topic Issue: Molecular Syndromology 2016, Vol. 7, No. 4

T. Dorn, J.R. Lemke (Herausgeber)

Buch | Softcover
84 Seiten
2016
Karger, S (Verlag)
978-3-318-05967-0 (ISBN)
38,50 inkl. MwSt
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During the past decade, the genetic basis of epilepsy disorders has been substantially elucidated. New genome-wide technologies have enabled screening for small copy number variants as well as for alterations of the DNA base sequence. This technical progress means that clinicians no longer have to hypothesize about defined genetic causes and speculate about variations in a restricted number of genes or diverse chromosomal abnormalities. Furthermore, a lot of lessons have been learned about the genetic architecture of the epilepsies and their pathophysiological principles. However, some important open questions remain. This special issue of Molecular Syndromology addresses diverse and frequent genetic aspects of epileptogenesis without being exhaustive. It makes it clear that genetic diagnostics enable us to clarify the pathophysiologic background. This is a prerequisite for investigating novel therapeutic prospects that will lead to precise approaches with the potential to positively impact the fate of patients.
Erscheinungsdatum
Zusatzinfo 12 fig., 7 in color, 12 tab.
Verlagsort Basel
Sprache englisch
Maße 210 x 280 mm
Gewicht 330 g
Themenwelt Medizin / Pharmazie Medizinische Fachgebiete Neurologie
Studium 2. Studienabschnitt (Klinik) Humangenetik
Naturwissenschaften Biologie Genetik / Molekularbiologie
Schlagworte Genetics • genomics • Human genetics • Neurobiology
ISBN-10 3-318-05967-6 / 3318059676
ISBN-13 978-3-318-05967-0 / 9783318059670
Zustand Neuware
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