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Items: 1 to 20 of 85

1.

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

Reid ES, Williams H, Stabej Ple Q, James C, Ocaka L, Bacchelli C, Footitt EJ, Boyd S, Cleary MA, Mills PB, Clayton PT.

JIMD Rep. 2016;27:79-84. doi: 10.1007/8904_2015_460. Epub 2015 Oct 8.

PMID:
26446091
2.

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.

Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium..

Brain. 2015 Nov;138(Pt 11):3238-50. doi: 10.1093/brain/awv263. Epub 2015 Sep 17.

PMID:
26384929
3.

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.

Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE.

Neurology. 2015 Sep 15;85(11):958-66. doi: 10.1212/WNL.0000000000001926. Epub 2015 Aug 19.

4.

Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.

Gürsoy S, Erçal D.

J Child Neurol. 2016 Mar;31(4):523-32. doi: 10.1177/0883073815599262. Epub 2015 Aug 13. Review.

PMID:
26271793
5.

Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.

Mastrangelo M.

Pediatr Neurol. 2015 Aug;53(2):119-29. doi: 10.1016/j.pediatrneurol.2015.04.001. Epub 2015 May 15. Review.

PMID:
26073591
6.

Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin.

Ambrosino P, Alaimo A, Bartollino S, Manocchio L, De Maria M, Mosca I, Gomis-Perez C, Alberdi A, Scambia G, Lesca G, Villarroel A, Taglialatela M, Soldovieri MV.

Biochim Biophys Acta. 2015 Sep;1852(9):1856-66. doi: 10.1016/j.bbadis.2015.06.012. Epub 2015 Jun 12.

7.

Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4.

Okumura A, Atsushi Ishii, Shimojima K, Kurahashi H, Yoshitomi S, lmai K, Imamura M, Seki Y, Toshiaki Shimizu T, Hirose S, Yamamoto T.

Epileptic Disord. 2015 Jun;17(2):165-71.

8.

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.

Abidi A, Devaux JJ, Molinari F, Alcaraz G, Michon FX, Sutera-Sardo J, Becq H, Lacoste C, Altuzarra C, Afenjar A, Mignot C, Doummar D, Isidor B, Guyen SN, Colin E, De La Vaissière S, Haye D, Trauffler A, Badens C, Prieur F, Lesca G, Villard L, Milh M, Aniksztejn L.

Neurobiol Dis. 2015 Aug;80:80-92. doi: 10.1016/j.nbd.2015.04.017. Epub 2015 May 22.

PMID:
26007637
9.

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

Grinton BE, Heron SE, Pelekanos JT, Zuberi SM, Kivity S, Afawi Z, Williams TC, Casalaz DM, Yendle S, Linder I, Lev D, Lerman-Sagie T, Malone S, Bassan H, Goldberg-Stern H, Stanley T, Hayman M, Calvert S, Korczyn AD, Shevell M, Scheffer IE, Mulley JC, Berkovic SF.

Epilepsia. 2015 Jul;56(7):1071-80. doi: 10.1111/epi.13020. Epub 2015 May 15.

10.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Milh M, Lacoste C, Cacciagli P, Abidi A, Sutera-Sardo J, Tzelepis I, Colin E, Badens C, Afenjar A, Coeslier AD, Dailland T, Lesca G, Philip N, Villard L.

Am J Med Genet A. 2015 Oct;167A(10):2314-8. doi: 10.1002/ajmg.a.37152. Epub 2015 May 10.

PMID:
25959266
11.

Early and effective treatment of KCNQ2 encephalopathy.

Pisano T, Numis AL, Heavin SB, Weckhuysen S, Angriman M, Suls A, Podesta B, Thibert RL, Shapiro KA, Guerrini R, Scheffer IE, Marini C, Cilio MR.

Epilepsia. 2015 May;56(5):685-91. doi: 10.1111/epi.12984. Epub 2015 Apr 16.

12.

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

Miceli F, Soldovieri MV, Ambrosino P, De Maria M, Migliore M, Migliore R, Taglialatela M.

J Neurosci. 2015 Mar 4;35(9):3782-93. doi: 10.1523/JNEUROSCI.4423-14.2015.

13.

Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures.

Pascual FT, Wierenga KJ, Ng YT.

Epilepsy Behav Case Rep. 2013 Mar 1;1:35-8. doi: 10.1016/j.ebcr.2013.01.004. eCollection 2013.

14.

Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

Dalen Meurs-van der Schoor C, van Weissenbruch M, van Kempen M, Bugiani M, Aronica E, Ronner H, Vermeulen RJ.

Front Pediatr. 2014 Dec 19;2:136. doi: 10.3389/fped.2014.00136. eCollection 2014.

15.

The variable phenotypes of KCNQ-related epilepsy.

Allen NM, Mannion M, Conroy J, Lynch SA, Shahwan A, Lynch B, King MD.

Epilepsia. 2014 Sep;55(9):e99-105. doi: 10.1111/epi.12715. Epub 2014 Jul 22.

16.

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; WGS500 Consortium., Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC.

Hum Mol Genet. 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25.

17.

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, Taglialatela M, Lesca G.

Hum Mutat. 2014 Mar;35(3):356-67. doi: 10.1002/humu.22500. Epub 2014 Jan 13.

PMID:
24375629
18.

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

Numis AL, Angriman M, Sullivan JE, Lewis AJ, Striano P, Nabbout R, Cilio MR.

Neurology. 2014 Jan 28;82(4):368-70. doi: 10.1212/WNL.0000000000000060. Epub 2013 Dec 26.

19.

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

Orhan G, Bock M, Schepers D, Ilina EI, Reichel SN, Löffler H, Jezutkovic N, Weckhuysen S, Mandelstam S, Suls A, Danker T, Guenther E, Scheffer IE, De Jonghe P, Lerche H, Maljevic S.

Ann Neurol. 2014 Mar;75(3):382-94. doi: 10.1002/ana.24080. Epub 2014 Mar 18.

PMID:
24318194
20.

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, Grønborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P; KCNQ2 Study Group..

Neurology. 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9.

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