Focal cortical dysplasia: An under‐recognized neuroimaging finding in ARID1B ‐related disorders
Rozalia Valentine, Sonal Mahida, Lacey Smith, Lauren LaFortune et autres
0 citationsEpileptic Disorders
Christelle Moufawad El Achkar
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51Publications signalées
2458Citations signalées
3Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesEpilepsy research and treatmentGenetics and Neurodevelopmental DisordersMetabolism and Genetic DisordersNeurological disorders and treatments
Publications récentes
Epilepsy‐Dyskinesia Syndromes: The Venn Diagram of Genetic Epilepsy and Movement Disorders
Katerina Bernardi, Julian E. Alecu, Christelle Moufawad El Achkar, Laura Tochen et autres
0 citationsMovement Disorders
New genotype-phenotype correlations and management recommendations for individuals with RERE variants
David Curtis, Xiaonan Zhao, Nichole M. Owen, Mahshid S. Azamian et autres
3 citationsGenetics in Medicine
Advancing N = 1 therapies: Building ecosystems for personalized genetic medicine
J. Moon, Miwa Higashi, Claudia Lentucci, Kaitlyn Phillips et autres
0 citationsJournal of the Neurological Sciences
Time to genetic testing in Dravet syndrome: Trends, barriers, and opportunities for improvement
Ross A. Carson, John E. Maldonado Pacheco, Christina Briscoe Abath, Christelle Moufawad El Achkar
2 citationsEpilepsia
P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants
David J. Curtis, Daryl A. Scott, Seema R. Lalani, Mahshid S. Azamian et autres
0 citationsGenetics in Medicine Open
Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A‐related epilepsy and/or neurodevelopmental disorders
Gabrielle Conecker, Maya Xia, JayEtta Hecker, Christelle Moufawad El Achkar et autres
20 citationsEpilepsia
Global modified‐Delphi consensus on comorbidities and prognosis of SCN8A ‐related epilepsy and/or neurodevelopmental disorders
Gabrielle Conecker, Maya Xia, JayEtta Hecker, Christelle Moufawad El Achkar et autres
14 citationsEpilepsia
KCTD7 ‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature
Sangeetha Yoganathan, Robyn Whitney, Maya Thomas, Sumita Danda et autres
11 citationsEpilepsia
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, Diane D. Shao et autres
34 citationsJAMA Neurology
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy
Hyun Yong Koh, Lacey Smith, Kimberly Wiltrout, Archana Podury et autres
43 citationsJAMA Network Open
A framework for individualized splice-switching oligonucleotide therapy
Jin‐Kuk Kim, Sijae Woo, Claudio M. de Gusmão, Boxun Zhao et autres
170 citationsNature
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