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Select item 42606081.

Revealing an unusual transparent phase of superhard iron tetraboride under high pressure

Komsilp Kotmool, Thanayut Kaewmaraya, Sudip Chakraborty, Jonas Anversa, Thiti Bovornratanaraks, Wei Luo, Huiyang Gou, Paulo Cesar Piquini, Tae Won Kang, Ho-kwang Mao, Rajeev Ahuja

Proc Natl Acad Sci U S A. 2014 Dec 2; 111(48): 17050–17053. Published online 2014 Nov 17. doi: 10.1073/pnas.1419244111

PMCID:: PMC4260608

Abstract Article PDF–1.2M

Select item 53224962.

Biaxial strain effect induced electronic structure alternation and trimeron recombination in Fe₃O₄

Xiang Liu, Li Yin, Wenbo Mi

Sci Rep. 2017; 7: 43403. Published online 2017 Feb 23. doi: 10.1038/srep43403

PMCID:: PMC5322496

Abstract Article PDF–1.9M

Select item 33701413.

Confirmation of an Epilepsy Modifier Locus on Mouse Chromosome 11 and Candidate Gene Analysis by RNA-Seq

Nicole A. Hawkins, Jennifer A. Kearney

Genes Brain Behav. Author manuscript; available in PMC 2013 Jun 1.

Published in final edited form as: Genes Brain Behav. 2012 Jun; 11(4): 452–460. Published online 2012 Apr 27. doi: 10.1111/j.1601-183X.2012.00790.x

PMCID:: PMC3370141

Abstract Article PDF–748K

Select item 35916944.

Ion channels in genetic and acquired forms of epilepsy

Holger Lerche, Mala Shah, Heinz Beck, Jeff Noebels, Dan Johnston, Angela Vincent

J Physiol. 2013 Feb 15; 591(Pt 4): 753–764. Published online 2012 Oct 22. doi: 10.1113/jphysiol.2012.240606

PMCID:: PMC3591694

Abstract Article PDF–835K

Select item 27644135.

Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+

A Poduri, Y Wang, D Gordon, S Barral-Rodriguez, C Barker-Cummings, A Ulgen, V Chitsazzadeh, R S. Hill, N Risch, W A. Hauser, T A. Pedley, C A. Walsh, R Ottman

Neurology. 2009 Oct 20; 73(16): 1264–1272. doi: 10.1212/WNL.0b013e3181bd10d3

PMCID:: PMC2764413

Abstract Article PDF–3.3M

Select item 22702156.

A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro

Alexi K Alekov, Md Masmudur Rahman, Nenad Mitrovic, Frank Lehmann-Horn, Holger Lerche

J Physiol. 2000 Dec 15; 529(Pt 3): 533–539. doi: 10.1111/j.1469-7793.2000.00533.x

PMCID:: PMC2270215

Abstract Article PDF–190K

Select item 20837597.

Relationship between five common viruses and febrile seizure in children

Brian Chung, Virginia Wong

Arch Dis Child. 2007 Jul; 92(7): 589–593. Published online 2007 Feb 6. doi: 10.1136/adc.2006.110221

PMCID:: PMC2083759

Abstract Article PDF–149K

Select item 17359618.

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus

D Audenaert, L Claes, K Claeys, L Deprez, T Van Dyck, D Goossens, J Del-Favero, W Van Paesschen, C Van Broeckhoven, P De Jonghe

J Med Genet. 2005 Dec; 42(12): 947–952. Published online 2005 Apr 12. doi: 10.1136/jmg.2005.031393

PMCID:: PMC1735961

Summary PDF–94K

Select item 17178149.

Characteristics of the initial seizure in familial febrile seizures

M van Stuijvenberg, E van Beijeren, N Wils, G Derksen-Lubsen, C M van Duijn, H Moll

Arch Dis Child. 1999 Feb; 80(2): 178–180. doi: 10.1136/adc.80.2.178

PMCID:: PMC1717814

Summary PDF–75K

Select item 162799710.

Relevance of a family history of seizures.

M Baraitser

Arch Dis Child. 1983 Jun; 58(6): 404–405. doi: 10.1136/adc.58.6.404

PMCID:: PMC1627997

Summary Page Browse PDF–235K

Select item 137800711.

Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.

F Zara, E Gennaro, M Stabile, I Carbone, M Malacarne, L Majello, R Santangelo, F A de Falco, F D Bricarelli

Am J Hum Genet. 2000 May; 66(5): 1552–1557. Published online 2000 Mar 30. doi: 10.1086/302876

PMCID:: PMC1378007

Summary PDF–192K

Select item 137798112.

Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.

M Mikami, T Yasuda, A Terao, M Nakamura, S Ueno, H Tanabe, T Tanaka, T Onuma, Y Goto, S Kaneko, A Sano

Am J Hum Genet. 1999 Sep; 65(3): 745–751. doi: 10.1086/302535

PMCID:: PMC1377981

Summary PDF–238K

Select item 128824113.

A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33

Stéphanie Baulac, Isabelle Gourfinkel-An, Fabienne Picard, Myriam Rosenberg-Bourgin, Jean-François Prud'homme, Michel Baulac, Alexis Brice, Eric LeGuern

Am J Hum Genet. 1999 Oct; 65(4): 1078–1085. Published online 1999 Sep 8. doi: 10.1086/302593

PMCID:: PMC1288241

Abstract Article PDF–261K

Select item 128812114.

A New Locus for Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2

I. Lopes-Cendes, I. E. Scheffer, S. F. Berkovic, M. Rousseau, E. Andermann, G. A. Rouleau

Am J Hum Genet. 2000 Feb; 66(2): 698–701. Published online 2000 Jan 19. doi: 10.1086/302768

PMCID:: PMC1288121

Abstract Article PDF–214K

Select item 127564015.

A Novel SCN1A Mutation Associated with Generalized Epilepsy with Febrile Seizures Plus—and Prevalence of Variants in Patients with Epilepsy

Andrew Escayg, Armin Heils, Bryan T. MacDonald, Karsten Haug, Thomas Sander, Miriam H. Meisler

Am J Hum Genet. 2001 Apr; 68(4): 866–873. Published online 2001 Mar 14. doi: 10.1086/319524

PMCID:: PMC1275640

Abstract Article PDF–392K

Select item 127563916.

Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus

R. H. Wallace, I. E. Scheffer, S. Barnett, M. Richards, L. Dibbens, R. R. Desai, T. Lerman-Sagie, D. Lev, A. Mazarib, N. Brand, B. Ben-Zeev, I. Goikhman, R. Singh, G. Kremmidiotis, A. Gardner, G. R. Sutherland, A. L. George Jr., J. C. Mulley, S. F. Berkovic

Am J Hum Genet. 2001 Apr; 68(4): 859–865. Published online 2001 Mar 13. doi: 10.1086/319516

PMCID:: PMC1275639

Abstract Article PDF–260K

Select item 105058017.

Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21.

R H Wallace, S F Berkovic, R A Howell, G R Sutherland, J C Mulley

J Med Genet. 1996 Apr; 33(4): 308–312. doi: 10.1136/jmg.33.4.308

PMCID:: PMC1050580

Summary Page Browse PDF–950K

Select item 338300718.

Augmented Currents of an HCN2 Variant in Patients with Febrile Seizure Syndromes

Leanne M. Dibbens, Christopher A. Reid, Bree Hodgson, Evan A. Thomas, Alison M. Phillips, Elena Gazina, Brett A. Cromer, Alison L. Clarke, Tallie Z. Baram, Ingrid E. Scheffer, Samuel F. Berkovic, Steven Petrou

Ann Neurol. Author manuscript; available in PMC 2012 Jun 26.

Published in final edited form as: Ann Neurol. 2010 Apr; 67(4): 542–546. doi: 10.1002/ana.21909

PMCID:: PMC3383007

Abstract Article PDF–510K

Select item 1104948119.

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review

Alessandro Orsini, Andrea Santangelo, Alessandra Carmignani, Anna Camporeale, Francesco Massart, Nina Tyutyusheva, Diego Giampietro Peroni, Thomas Foiadelli, Alessandro Ferretti, Benedetta Toschi, Silvia Romano, Alice Bonuccelli

Genes (Basel) 2024 Apr; 15(4): 436. Published online 2024 Mar 29. doi: 10.3390/genes15040436