Christelle Moufawad El Achkar, M.D.
This page shows the publications co-authored by Christelle Moufawad El Achkar and Lance Rodan.
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131.
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Ann Neurol. 2019 06; 85(6):921-926.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2019 Mar 07; 104(3):562.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 11 01; 103(5):666-678.
Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164.
Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325.
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