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Items: 1 to 20 of 76

1.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

Vill K, Müller-Felber W, Gläser D, Kuhn M, Teusch V, Schreiber H, Weis J, Klepper J, Schirmacher A, Blaschek A, Wiessner M, Strom TM, Dräger B, Hofmeister-Kiltz K, Tacke M, Gerstl L, Young P, Horvath R, Senderek J.

Hum Genet. 2018 Dec;137(11-12):911-919. doi: 10.1007/s00439-018-1952-6. Epub 2018 Nov 21.

PMID:
30460542
2.

Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group.

Kossoff EH, Zupec-Kania BA, Auvin S, Ballaban-Gil KR, Christina Bergqvist AG, Blackford R, Buchhalter JR, Caraballo RH, Cross JH, Dahlin MG, Donner EJ, Guzel O, Jehle RS, Klepper J, Kang HC, Lambrechts DA, Liu YMC, Nathan JK, Nordli DR Jr, Pfeifer HH, Rho JM, Scheffer IE, Sharma S, Stafstrom CE, Thiele EA, Turner Z, Vaccarezza MM, van der Louw EJTM, Veggiotti P, Wheless JW, Wirrell EC; Charlie Foundation; Matthew's Friends; Practice Committee of the Child Neurology Society.

Epilepsia Open. 2018 May 21;3(2):175-192. doi: 10.1002/epi4.12225. eCollection 2018 Jun.

3.

Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial.

Tacke M, Borggraefe I, Gerstl L, Heinen F, Vill K, Bonfert M, Bast T; HEAD Study group, Neubauer BA, Baumeister F, Baethmann M, Bentele K, Blank C, Blank HM, Bode H, Bosch F, Brandl U, Brockmann K, Dahlem P, Ernst JP, Feldmann E, Fiedler A, Gerigk M, Heß S, Hikel C, Hoffmann HG, Kieslich M, Klepper J, Kluger G, Koch H, Koch W, Korinthenberg R, Krois I, Kühne H, Kurlemann G, Mandl M, Mause U, Navratil P, Opp J, Penzien J, Prietsch V, Quattländer A, Rating D, Schara U, Shamdeen MG, Sprinz A, Wendker-Magrabi H, Stephani U, Muhle H, Straßburg HM, Töpke B, Trollmann R, Tuschen-Hofstätter E, Waltz S, Weber G, Wien FU, Wolff M, Polster T, Freitag H, Sönmez Ö, Reinhardt K, Traus M, Hoovey Z.

Seizure. 2018 Mar;56:115-120. doi: 10.1016/j.seizure.2018.01.015. Epub 2018 Feb 3.

PMID:
29475094
4.

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA.

Mol Genet Metab. 2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31.

PMID:
29397290
5.

10 patients, 10 years - Long term follow-up of cardiovascular risk factors in Glut1 deficiency treated with ketogenic diet therapies: A prospective, multicenter case series.

Heussinger N, Della Marina A, Beyerlein A, Leiendecker B, Hermann-Alves S, Dalla Pozza R, Klepper J.

Clin Nutr. 2018 Dec;37(6 Pt A):2246-2251. doi: 10.1016/j.clnu.2017.11.001. Epub 2017 Nov 11.

6.

Ketogenic Diets in the Treatment of Epilepsy.

Elia M, Klepper J, Leiendecker B, Hartmann H.

Curr Pharm Des. 2017;23(37):5691-5701. doi: 10.2174/1381612823666170809101517.

PMID:
28799513
7.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.

Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.

PMID:
28379373
8.

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Willemsen MA, Vissers LE, Verbeek MM, van Bon BW, Geuer S, Gilissen C, Klepper J, Kwint MP, Leen WG, Pennings M, Wevers RA, Veltman JA, Kamsteeg EJ.

Eur J Hum Genet. 2017 Jun;25(6):771-774. doi: 10.1038/ejhg.2017.45. Epub 2017 Apr 5.

9.

Paroxysmal Nonepileptic Events in Glut1 Deficiency.

Klepper J, Leiendecker B, Eltze C, Heussinger N.

Mov Disord Clin Pract. 2016 Nov-Dec;3(6):607-610. doi: 10.1002/mdc3.12387. Epub 2016 Jul 8.

10.

Ketogenic diet guidelines for infants with refractory epilepsy.

van der Louw E, van den Hurk D, Neal E, Leiendecker B, Fitzsimmon G, Dority L, Thompson L, Marchió M, Dudzińska M, Dressler A, Klepper J, Auvin S, Cross JH.

Eur J Paediatr Neurol. 2016 Nov;20(6):798-809. doi: 10.1016/j.ejpn.2016.07.009. Epub 2016 Jul 17. Review.

PMID:
27470655
11.

Treatment of Infantile Spasms: Report of the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society for Neuropediatrics.

Tibussek D, Klepper J, Korinthenberg R, Kurlemann G, Rating D, Wohlrab G, Wolff M, Schmitt B.

Neuropediatrics. 2016 Jun;47(3):139-50. doi: 10.1055/s-0036-1572411. Epub 2016 Feb 24. Review.

PMID:
26910805
12.

Severe Hypertriglyceridemia in Glut1D on Ketogenic Diet.

Klepper J, Leiendecker B, Heussinger N, Lausch E, Bosch F.

Neuropediatrics. 2016 Apr;47(2):132-6. doi: 10.1055/s-0036-1572413. Epub 2016 Feb 22.

PMID:
26902182
13.

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S.

Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10. Review.

14.

GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases?

Klepper J.

Dev Med Child Neurol. 2015 Oct;57(10):896-7. doi: 10.1111/dmcn.12807. Epub 2015 May 22. No abstract available.

15.

Chronic Candida albicans Meningitis in a 4-Year-Old Girl with a Homozygous Mutation in the CARD9 Gene (Q295X).

Herbst M, Gazendam R, Reimnitz D, Sawalle-Belohradsky J, Groll A, Schlegel PG, Belohradsky B, Renner E, Klepper J, Grimbacher B, Kuijpers T, Liese J.

Pediatr Infect Dis J. 2015 Sep;34(9):999-1002. doi: 10.1097/INF.0000000000000736.

PMID:
25933095
16.

Oligoclonal bands predict multiple sclerosis in children with optic neuritis.

Heussinger N, Kontopantelis E, Gburek-Augustat J, Jenke A, Vollrath G, Korinthenberg R, Hofstetter P, Meyer S, Brecht I, Kornek B, Herkenrath P, Schimmel M, Wenner K, Häusler M, Lutz S, Karenfort M, Blaschek A, Smitka M, Karch S, Piepkorn M, Rostasy K, Lücke T, Weber P, Trollmann R, Klepper J, Häussler M, Hofmann R, Weissert R, Merkenschlager A, Buttmann M; for GRACE-MS (German-speaking Research Alliance for ChildrEn with Multiple Sclerosis).

Ann Neurol. 2015 Jun;77(6):1076-82. doi: 10.1002/ana.24409. Epub 2015 May 11.

PMID:
25820181
17.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.

Epilepsia. 2014 Apr;55(4):e25-9. doi: 10.1111/epi.12554. Epub 2014 Mar 1. Review.

18.

Child neurology: differential diagnosis of a low CSF glucose in children and young adults.

Leen WG, de Wit CJ, Wevers RA, van Engelen BG, Kamsteeg EJ, Klepper J, Verbeek MM, Willemsen MA.

Neurology. 2013 Dec 10;81(24):e178-81. doi: 10.1212/01.wnl.0000437294.20817.99. Review.

PMID:
24323444
19.

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR.

Nat Genet. 2013 Sep;45(9):1077-82. doi: 10.1038/ng.2723. Epub 2013 Aug 4.

PMID:
23913003
20.

Glut1 deficiency syndrome and novel ketogenic diets.

Klepper J, Leiendecker B.

J Child Neurol. 2013 Aug;28(8):1045-8. doi: 10.1177/0883073813487600. Epub 2013 May 10.

PMID:
23666044

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