Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE.
Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31.
PMID:23542697
Incomplete penetrance and variable phenotypes of a novel NPRL2 frameshift variant: from familial focal epilepsy with variable foci 2 to neurodevelopmental disorders.
Zhu H, Wang Q, Deng W, Zhu S, Zeng L, Chen A, Pang Y, Xiong F.
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PMID:40804712
Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12.
Morales-Corraliza J, Gómez-Garre P, Sanz R, Díaz-Otero F, Gutiérrez-Delicado E, Serratosa JM.
Association between phenotypes and genotype of developmental and epileptic encephalopathy in next-generation sequencing methods in infants: A scoping review.
Triono A, Herini ES, Mooiindie KH, Iskandar K, Gunadi.
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Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families.
Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, Vigevano F, Genton P, Guerrini R, Gericke CA, An I, Rudolf G, Herman A, Brice A, Marescaux C, LeGuern E.