Deb Kumar Pal - publications

Selected Bibliography (of 75)


1. Pal DK, Evgrafov OV, Tabares P, Zhang FL, Durner M, Greenberg DA. BRD2 (RING3) is a probable

major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet, 2003;73(2):261-270.


2. Strug LJ, Clarke T, Greenberg DA, Pal DK. Centrotemporal sharp wave EEG trait in Rolandic Epilepsy

maps to ELP4, Eur J Hum Genet, 17(9):1171-81; 2009.


3. Strug LJ, Hodge SE, Pal DK, Rohde C. A pure likelihood approach to the analysis of genetic association

data: an alternative to Bayesian and Frequentist analysis, Eur J Hum Genet, 2010 Aug;18(8):933-41.


4. Pal DK, Pong AW, Chung WK. Genetic evaluation and genetic counseling in the epilepsies, Nat Rev

Neurol. 2010 Aug;6(8):445-53.


5. Pal DK, Lieberman P, Clarke T, Strug LJ. Pleiotropic effects of the 11p13 locus on speech dyspraxia and

susceptibility to Rolandic epilepsy, Genes, Brain and Behaviour, 2010 9(8):1004-1012.


6. Strug LJ, Addis L, Chiang T, Pal DK. The genetics of reading disability in an often excluded sample: novel

loci for reading disability in rolandic epilepsy map to 1q42 and 7q21. PLoS One, 2012, 7(7) e40696.


7. Lesca G, Rudolf G, Bruneau N, et al. GRIN2A mutations in acquired epileptic aphasia and related childhood

focal epilepsies and encephalopathies. Nature Genetics. 45, 9, p. 1061-1066.


8. Addis L, Chiang T, Clarke T, Strug LJ, Pal DK. Evidence for linkage of migraine in Rolandic Epilepsy

Families to known 1q23.1-2 (FHM2) and novel 17q22 loci. Genes, Brain and Behav, 2014 Mar;13(3):333-40.


9. Euro Epinomics-RES Consortium, Epilepsy Phenome/Genome P, Epi KC. De novo mutations in synaptic

transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet 2014;95:360-370.


10. Lemke JR, Hendrickx R, Geider K, et al. GRIN2B mutations in West syndrome and intellectual disability

with focal epilepsy. Ann Neurol 2014;75:147-154.


11. Nava C, Dalle C, Rastetter A, et al. De novo mutations in HCN1 cause early infantile epileptic

encephalopathy. Nat Genet 2014;46:640-645.


12. Schubert J, Siekierska A, Langlois M, et al. Mutations in STX1B, encoding a presynaptic protein, cause feverassociated

epilepsy syndromes. Nat Genet 2014;46:1327-1332.


13. Suls A, Jaehn JA, Kecskes A, et al. De novo loss-of-function mutations in CHD2 cause a fever-sensitive

myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet 2013;93:967-975.


14. Derkach A, Addis L, Houlston RS, Pal DK, Strug LJ. Association Analysis Using Next Generation

Sequence Data: The Robust Variance Score Statistic. Bioinformatics 2014 Aug 1;30(15):2179-88.


15. Li W, Tomlinson I, Houslton R, Dobbins S, Pal DK, Strug LJ. Prioritizing Rare Variants with Conditional

Likelihood Ratios. Hum Hered. 2015;79(1):5-13. doi: 10.1159/000371579. Epub 2015 Feb 3.


16. Syrbe S, Hedrich UB, Riesch E, EuroEPINOMICS RES. De novo loss- or gain-of-function mutations in

KCNA2 cause epileptic encephalopathy. Nat Genet. 2015 Mar 9. doi: 10.1038/ng.3239.