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Search Results - Mattas, Lauren S
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Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
by
Dahimene, Shehrazade
,
von Elsner, Leonie
,
Holling, Tess
,
Mattas, Lauren S
,
Pickard, Jess
,
Lessel, Davor
,
Pilch, Kjara S
,
Kadurin, Ivan
,
Pratt, Wendy S
,
Zhulin, Igor B
,
Dai, Hongzheng
,
Hempel, Maja
,
Ruzhnikov, Maura R Z
,
Kutsche, Kerstin
,
Dolphin, Annette C
Published in
Brain (London, England : 1878)
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Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients
by
Deneubourg, Celine
,
Dafsari, Hormos Salimi
,
Lowe, Simon
,
Martinez-Cotrina, Aitana
,
Mazaud, David
,
Park, Seo Hyun
,
Vergani, Virginia
,
Almacellas Barbanoj, Amanda
,
Maroofian, Reza
,
Averdunk, Luisa
,
Ghayoor-Karimiani, Ehsan
,
Jayawant, Sandeep
,
Mignot, Cyril
,
Keren, Boris
,
Peters, Renate
,
Kamath, Arveen
,
Mattas, Lauren
,
Verma, Sumit
,
Silwal, Arpana
,
Distelmaier, Felix
,
Houlden, Henry
,
Lignani, Gabriele
,
Antebi, Adam
,
Jepson, James
,
Jungbluth, Heinz
,
Fanto, Manolis
Published in
Autophagy
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Autophagy
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Brain
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Life Sciences & Biomedicine
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Science & Technology
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Age Of Onset
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Animals
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Biallelic Variants
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Cacna2D1
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Calcium
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Calcium Channel
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Calcium Channels
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Calcium Channels, L-Type
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Calcium Channels, N-Type
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Cell Biology
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Cell Membrane
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Clinical Neurology
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Epilepsy
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Epileptic Encephalopathy
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Humans
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Loss-Of-Function
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