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EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality
by
Bailey, Julia N.
,
Patterson, Christopher
,
de Nijs, Laurence
,
Durón, Reyna M.
,
Nguyen, Viet-Huong
,
Tanaka, Miyabi
,
Medina, Marco T.
,
Jara-Prado, Aurelio
,
Martínez-Juárez, Iris E.
,
Ochoa, Adriana
,
Molina, Yolli
,
Suzuki, Toshimitsu
,
Alonso, María E.
,
Wight, Jenny E.
,
Lin, Yu-Chen
,
Guilhoto, Laura
,
Targas Yacubian, Elza Marcia
,
Machado-Salas, Jesús
,
Daga, Andrea
,
Yamakawa, Kazuhiro
,
Grisar, Thierry M.
,
Lakaye, Bernard
,
Delgado-Escueta, Antonio V.
Published in
Genetics in medicine
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Genetics In Medicine
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Subjects
Animals
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Calcium-Binding Proteins - Genetics
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Causality
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Dendrites - Pathology
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Efhc1
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Exome
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Gene Frequency
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Genetics & Heredity
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Human Health Sciences
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Humans
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Juvenile Myoclonic Epilepsy
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Life Sciences & Biomedicine
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Mice
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Mice, Knockout
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Mutation
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Myoclonic Epilepsy, Juvenile - Genetics
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Myoclonic Epilepsy, Juvenile - Physiopathology
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National Human Genome Research Institute
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Neurologie
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Neurology
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Springer Nature - Connect Here First To Enable Access
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