Browse by UCL people
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Number of items: 2.
Article
Dahimene, Shehrazade;
von Elsner, Leonie;
Holling, Tess;
Mattas, Lauren S;
Pickard, Jess;
Lessel, Davor;
Pilch, Kjara S;
... Dolphin, Annette C; + view all
(2022)
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
Brain
10.1093/brain/awac081.
(In press).
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Dahimene, S;
Page, KM;
Nieto-Rostro, M;
Pratt, WS;
D'Arco, M;
Dolphin, AC;
(2016)
A Ca(V)2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant.
Neurobiology of Disease
, 93
pp. 243-256.
10.1016/j.nbd.2016.05.020.
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