C. Depienne, I. Gourfinkel-an, S. Baulac, and E. Leguern, Genes in infantile epileptic encephalopathies, 2012.

J. E. O'brien and M. H. Meisler, Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability, Front Genet, vol.4, p.213, 2013.

C. Dravet, The core Dravet syndrome phenotype, Epilepsia, vol.52, pp.3-9, 2011.

L. Claes, De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy, Am J Hum Genet, vol.68, pp.1327-1359, 2001.

C. Depienne, Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients, J Med Genet, vol.46, pp.183-91, 2009.

C. Depienne, Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females, PLoS Genet, vol.5, p.1000381, 2009.

L. M. Dibbens, X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment, Nat Genet, vol.40, pp.776-81, 2008.

D. Pinto, Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants, Nat Biotechnol, vol.29, pp.512-532, 2011.

A. Itsara, Population analysis of large copy number variants and hotspots of human genetic disease, Am J Hum Genet, vol.84, pp.148-61, 2009.

G. M. Cooper, A copy number variation morbidity map of developmental delay, Nat Genet, vol.43, pp.838-884, 2011.

C. Nava, Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders, Eur J Hum Genet, vol.22, pp.71-79, 2014.

B. Santoro, Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain, Cell, vol.93, pp.717-746, 1998.

E. E. Benarroch, HCN channels: function and clinical implications, Neurology, vol.80, pp.304-314, 2013.

M. Biel, C. Wahl-schott, S. Michalakis, and X. Zong, Hyperpolarization-activated cation channels: from genes to function, Physiol Rev, vol.89, pp.847-85, 2009.

A. Lorincz, T. Notomi, G. Tamas, R. Shigemoto, and Z. Nusser, Polarized and compartment-dependent distribution of HCN1 in pyramidal cell dendrites, Nat Neurosci, vol.5, pp.1185-93, 2002.

N. P. Poolos, Hyperpolarization-Activated Cyclic Nucleotide-Gated (HCN) Ion Channelopathy in Epilepsy, 2012.

D. Kase and K. Imoto, The Role of HCN Channels on Membrane Excitability in the Nervous System, J Signal Transduct, vol.2012, p.619747, 2012.

M. F. Nolan, A behavioral role for dendritic integration: HCN1 channels constrain spatial memory and plasticity at inputs to distal dendrites of CA1 pyramidal neurons, Cell, vol.119, pp.719-751, 2004.

B. Santoro, Molecular and functional heterogeneity of hyperpolarization-activated pacemaker channels in the mouse CNS, J Neurosci, vol.20, pp.5264-75, 2000.

R. A. Bender, Differential and age-dependent expression of hyperpolarizationactivated, cyclic nucleotide-gated cation channel isoforms 1-4 suggests evolving roles in the developing rat hippocampus, Neuroscience, vol.106, pp.689-98, 2001.

K. Chen, Persistently modified h-channels after complex febrile seizures convert the seizure-induced enhancement of inhibition to hyperexcitability, Nat Med, vol.7, pp.331-338, 2001.

Y. Noam, C. Bernard, and T. Z. Baram, Towards an integrated view of HCN channel role in epilepsy, Curr Opin Neurobiol, vol.21, pp.873-882, 2011.

L. M. Dibbens, Augmented currents of an HCN2 variant in patients with febrile seizure syndromes, Ann Neurol, vol.67, pp.542-548, 2010.

B. Tang, T. Sander, K. B. Craven, A. Hempelmann, and A. Escayg, Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy, Neurobiol Dis, vol.29, pp.59-70, 2008.

A. Brewster, Developmental febrile seizures modulate hippocampal gene expression of hyperpolarization-activated channels in an isoform-and cell-specific manner, J Neurosci, vol.22, pp.4591-4600, 2002.

, Additional collaborators of the EuroEPINOMICS RES CONSORTIUM

, José M. Serratosa Fernandez, vol.28, p.36

, 31 Danish Epilepsy Centre, Dianalund, Denmark. 32 Department of Medical Genetics, 37 Institute for Molecular Medicine Finland (FIMM), vol.4