Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Niturad, Cristina Elena; Lev, Dorit; Kalscheuer, Vera M.; Charzewska, Agnieszka; Schubert, Julian; Lerman-Sagie, Tally; Kroes, Hester Y.; Oegema, Renske; Traverso, Monica; Specchio, Nicola; Lassota, Maria; Chelly, Jamel; Bennett-Back, Odeya; Carmi, Nirit; Koffler-Brill, Tal; Iacomino, Michele; Trivisano, Marina; Capovilla, Giuseppe; Striano, Pasquale; Nawara, Magdalena; Rzonca, Sylwia; Fischer, Ute; Bienek, Melanie; Jensen, Corinna; Hu, Hao; Thiele, Holger; Altmuller, Janine; Krause, Roland; May, Patrick; Becker, Felicitas; Balling, Rudi; Biskup, Saskia; Haas, Stefan A.; Nuernberg, Peter; van Gassen, Koen L. I.; Lerche, Holger; Zara, Federico; Maljevic, Snezana; Leshinsky-Silver, Esther

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Autor(en):

Niturad, Cristina Elena; Lev, Dorit; Kalscheuer, Vera M.; Charzewska, Agnieszka; Schubert, Julian; Lerman-Sagie, Tally; Kroes, Hester Y.; Oegema, Renske; Traverso, Monica; Specchio, Nicola; Lassota, Maria; Chelly, Jamel; Bennett-Back, Odeya; Carmi, Nirit; Koffler-Brill, Tal; Iacomino, Michele; Trivisano, Marina; Capovilla, Giuseppe; Striano, Pasquale; Nawara, Magdalena; Rzonca, Sylwia; Fischer, Ute; Bienek, Melanie; Jensen, Corinna; Hu, Hao; Thiele, Holger; Altmuller, Janine; Krause, Roland; May, Patrick; Becker, Felicitas; Balling, Rudi; Biskup, Saskia; Haas, Stefan A.; Nuernberg, Peter; van Gassen, Koen L. I.; Lerche, Holger; Zara, Federico; Maljevic, Snezana; Leshinsky-Silver, Esther

Tübinger Autor(en):

Niturad, Cristina
Schubert, Julian
Becker, Felicitas
Lerche, Holger
Maljevic, Snezana

Erschienen in:

Brain (2017), Bd. 140, S. 2879-2894

Verlagsangabe:

Oxford Univ Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1093/brain/awx236

ISSN:

1460-2156