Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 108

1.

Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature.

Schubert-Bast S, Wolff M, Wiemer-Kruel A, von Spiczak S, Trollmann R, Reif PS, Pritchard C, Polster T, Neubauer BA, Mayer T, Macdonald D, Kurlemann G, Kluger G, Klein KM, Kieslich M, Kay L, Kalski M, Irwin J, Herting A, Carroll J, Bettendorf U, Bast T, Rosenow F, Strzelczyk A.

Epilepsy Behav. 2019 Sep;98(Pt A):88-95. doi: 10.1016/j.yebeh.2019.06.021. Epub 2019 Jul 10.

2.

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J.

Mol Biol Rep. 2019 Aug;46(4):4507-4516. doi: 10.1007/s11033-019-04906-4. Epub 2019 Jul 3.

PMID:
31270756
3.

A multicenter, matched case-control analysis comparing burden-of-illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany.

Strzelczyk A, Schubert-Bast S, Bast T, Bettendorf U, Fiedler B, Hamer HM, Herting A, Kalski M, Kay L, Kieslich M, Klein KM, Kluger G, Kurlemann G, Mayer T, Neubauer BA, Polster T, von Spiczak S, Stephani U, Trollmann R, Wiemer-Kruel A, Wolff M, Irwin J, Carroll J, Pritchard C, Rosenow F.

Epilepsia. 2019 Aug;60(8):1697-1710. doi: 10.1111/epi.16099. Epub 2019 Jun 27.

PMID:
31247127
4.

Encephalopathy Associated With Neurochondrin Autoantibodies.

Schumacher M, Rommel FR, Arneth B, Renz H, Stöcker W, Windhorst A, Hahn A, Neubauer BA.

J Child Neurol. 2019 Oct;34(11):660-665. doi: 10.1177/0883073819849773. Epub 2019 May 29.

PMID:
31138003
5.

[Erratum to: Acceptance, demand, reasons for consultation and outcome of counseling on epilepsy in Hesse and Lower Franconia].

Kondziela JM, Schulz J, Brunst B, Fuchs S, Gerlinger S, Neif B, Staab-Kupke H, Vasileiadis S, Brodisch P, Knake S, Kniess T, Schade B, Neubauer BA, Rosenow F, Schubert-Bast S, Strzelczyk A, Willems LM.

Nervenarzt. 2019 May 17. doi: 10.1007/s00115-019-0731-5. [Epub ahead of print] German. No abstract available.

PMID:
31101957
6.

Quality of life and correlating factors in children, adolescents with epilepsy, and their caregivers: A cross-sectional multicenter study from Germany.

Riechmann J, Willems LM, Boor R, Kieslich M, Knake S, Langner C, Neubauer BA, Oberman B, Philippi H, Reese JP, Rochel M, Schubert-Bast S, Seeger J, Seipelt P, Stephani U, Rosenow F, Hamer HM, Strzelczyk A.

Seizure. 2019 Jul;69:92-98. doi: 10.1016/j.seizure.2019.03.016. Epub 2019 Mar 29.

PMID:
31004927
7.

Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany.

Strzelczyk A, Kalski M, Bast T, Wiemer-Kruel A, Bettendorf U, Kay L, Kieslich M, Kluger G, Kurlemann G, Mayer T, Neubauer BA, Polster T, Herting A, von Spiczak S, Trollmann R, Wolff M, Irwin J, Carroll J, Macdonald D, Pritchard C, Klein KM, Rosenow F, Schubert-Bast S.

Eur J Paediatr Neurol. 2019 May;23(3):392-403. doi: 10.1016/j.ejpn.2019.02.014. Epub 2019 Feb 28.

8.

[Acceptance, demand, reasons for consultation and outcome of counseling on epilepsy in Hesse and Lower Franconia].

Kondziela JM, Schulz J, Brunst B, Fuchs S, Gerlinger S, Neif B, Staab-Kupke H, Vasileiadis S, Brodisch P, Knake S, Kniess T, Schade B, Neubauer BA, Rosenow F, Schubert-Bast S, Strzelczyk A, Willems LM.

Nervenarzt. 2019 Aug;90(8):832-839. doi: 10.1007/s00115-019-0676-8. German. Erratum in: Nervenarzt. 2019 May 17;:.

PMID:
30694366
9.

Counseling and social work for people with epilepsy in Germany: A cross-sectional multicenter study on demand, frequent content, patient satisfaction, and burden-of-disease.

Willems LM, Kondziela JM, Knake S, Schulz J, Neif B, Schade B, Gerlinger S, Neubauer BA, Brunst B, Schubert-Bast S, Fuchs S, Staab-Kupke H, Kniess T, Rosenow F, Strzelczyk A.

Epilepsy Behav. 2019 Mar;92:114-120. doi: 10.1016/j.yebeh.2018.12.004. Epub 2019 Jan 14.

PMID:
30654230
10.

Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology.

Tacke M, Rupp N, Gerstl L, Heinen F, Vill K, Bonfert M, Neubauer BA, Bast T, Borggraefe I; Further Members of the German HEAD Study Group.

Acta Neurol Scand. 2018 Dec;138(6):475-481. doi: 10.1111/ane.13015. Epub 2018 Sep 19.

PMID:
30259965
11.

Rare gene deletions in genetic generalized and Rolandic epilepsies.

Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmüller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA; EuroEPINOMICS CoGIE Consortium, Zara F, Lehesjoki AE, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, Nürnberg P.

PLoS One. 2018 Aug 27;13(8):e0202022. doi: 10.1371/journal.pone.0202022. eCollection 2018.

12.

Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies.

Tiefes AM, Hartlieb T, Tacke M, von Stülpnagel-Steinbeis C, Larsen LHG, Hao Q, Dahl HA, Neubauer BA, Gerstl L, Kudernatsch M, Kluger GJ, Borggraefe I.

Clin EEG Neurosci. 2019 Jul;50(4):267-272. doi: 10.1177/1550059418794347. Epub 2018 Aug 17.

PMID:
30117335
13.

De novo variants in neurodevelopmental disorders with epilepsy.

Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR.

Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.

PMID:
29942082
14.

In Memoriam: Professor Hermann Doose.

Neubauer BA, Schara U; Gesellschaft für Neuropädiatrie.

Neuropediatrics. 2018 Aug;49(4):299-300. doi: 10.1055/s-0038-1665549. Epub 2018 Jun 19. No abstract available.

PMID:
29920626
15.

Erratum: Rett Syndrome.

Neubauer BA.

Neuropediatrics. 2018 Apr;49(2):e1. doi: 10.1055/s-0038-1636996. Epub 2018 Feb 26. No abstract available.

PMID:
29482254
16.

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.

17.

Duplications at 19q13.33 in patients with neurodevelopmental disorders.

Pérez-Palma E, Saarentaus E, Ravoet M, De Ferrari GV, Nürnberg P, Isidor B, Neubauer BA, Lal D.

Neurol Genet. 2018 Jan 26;4(1):e210. doi: 10.1212/NXG.0000000000000210. eCollection 2018 Feb.

18.

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

Bobbili DR, Lal D, May P, Reinthaler EM, Jabbari K, Thiele H, Nothnagel M, Jurkowski W, Feucht M, Nürnberg P, Lerche H, Zimprich F, Krause R, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Steinböck H, Neophytou B, Geldner J, Gruber-Sedlmayr U, Haberlandt E, Ronen GM, Altmüller J, Lal D, Nürnberg P, Sander T, Thiele H, Krause R, May P, Balling R, Lerche H, Neubauer BA; EUROEPINOMICS COGIE Consortium.

Eur J Hum Genet. 2018 Feb;26(2):258-264. doi: 10.1038/s41431-017-0034-x. Epub 2018 Jan 22.

19.

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

Myers KA, McGlade A, Neubauer BA, Lal D, Berkovic SF, Scheffer IE, Hildebrand MS.

PLoS One. 2018 Jan 19;13(1):e0191546. doi: 10.1371/journal.pone.0191546. eCollection 2018.

20.

Rett Syndrome.

Neubauer BA.

Neuropediatrics. 2018 Apr;49(2):161-162. doi: 10.1055/s-0037-1609054. Epub 2017 Dec 13. No abstract available. Erratum in: Neuropediatrics. 2018 Apr;49(2):e1.

PMID:
29237191
21.

Chorea Minor Associated with Anti-Neurochondrin Autoantibodies.

Rommel FR, Miske R, Stöcker W, Arneth B, Neubauer BA, Hahn A.

Neuropediatrics. 2017 Dec;48(6):482-483. doi: 10.1055/s-0037-1606371. Epub 2017 Sep 29. No abstract available.

PMID:
28962041
22.

[Epilepsy-new diagnostic tools, old drugs? : Therapeutic consequences of epilepsy genetics].

Tacke M, Neubauer BA, Gerstl L, Roser T, Rémi J, Borggraefe I.

Nervenarzt. 2017 Dec;88(12):1385-1394. doi: 10.1007/s00115-017-0427-7. Review. German.

PMID:
28932874
23.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A.

Neurogenetics. 2017 Dec;18(4):185-194. doi: 10.1007/s10048-017-0520-x. Epub 2017 Aug 26.

24.

Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

Logeswaran T, Friedburg C, Hofmann K, Akintuerk H, Biskup S, Graef M, Rad A, Weber A, Neubauer BA, Schranz D, Bouvagnet P, Lorenz B, Hahn A.

Am J Med Genet A. 2017 Sep;173(9):2566. doi: 10.1002/ajmg.a.38329. Epub 2017 Jun 23. No abstract available.

PMID:
28816420
25.

Normal Head Shape Parameters in the First 2 Years of Life and Effect of Helmet Therapy.

Wilbrand JF, Kaps K, Tabak D, Bierther U, Wilbrand M, Neubauer BA, Pons-Kuehnemann J, Howaldt HP, Hahn A.

Neuropediatrics. 2017 Dec;48(6):432-441. doi: 10.1055/s-0037-1604482. Epub 2017 Aug 9. No abstract available.

PMID:
28793359
26.

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.

Pérez-Palma E, Helbig I, Klein KM, Anttila V, Horn H, Reinthaler EM, Gormley P, Ganna A, Byrnes A, Pernhorst K, Toliat MR, Saarentaus E, Howrigan DP, Hoffman P, Miquel JF, De Ferrari GV, Nürnberg P, Lerche H, Zimprich F, Neubauer BA, Becker AJ, Rosenow F, Perucca E, Zara F, Weber YG, Lal D.

J Med Genet. 2017 Sep;54(9):598-606. doi: 10.1136/jmedgenet-2016-104495. Epub 2017 Jul 29.

27.

DNM1 encephalopathy: A new disease of vesicle fission.

von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group.

Neurology. 2017 Jul 25;89(4):385-394. doi: 10.1212/WNL.0000000000004152. Epub 2017 Jun 30.

28.

Abstracts of the 43rd Annual Meeting of the Society for Neuropediatrics.

Neubauer BA.

Neuropediatrics. 2017 Apr;48(S 01):e1. doi: 10.1055/s-0037-1602699. Epub 2017 May 8. No abstract available.

PMID:
28482375
29.

Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.

Grzybowski M, Schänzer A, Pepler A, Heller C, Neubauer BA, Hahn A.

Neuropediatrics. 2017 Dec;48(6):451-455. doi: 10.1055/s-0037-1601868. Epub 2017 Apr 15.

PMID:
28411587
30.

Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

Logeswaran T, Friedburg C, Hofmann K, Akintuerk H, Biskup S, Graef M, Rad A, Weber A, Neubauer BA, Schranz D, Bouvagnet P, Lorenz B, Hahn A.

Am J Med Genet A. 2017 Apr;173(4):959-965. doi: 10.1002/ajmg.a.38102. Erratum in: Am J Med Genet A. 2017 Sep;173(9):2566.

PMID:
28328125
31.

Invitation and Welcome to the 43rd Annual Meeting of the Society for Neuropediatrics.

Neubauer BA, Hahn A.

Neuropediatrics. 2017 Apr;48(2):61. doi: 10.1055/s-0037-1601319. Epub 2017 Mar 21. No abstract available.

PMID:
28324907
32.

Treatment of Super-Refractory Status Epilepticus in FIRES.

Neubauer BA.

Neuropediatrics. 2017 Feb;48(1):3-4. doi: 10.1055/s-0036-1597615. Epub 2016 Dec 27. No abstract available.

PMID:
28027569
33.

Effect of anticonvulsive treatment on neuropsychological performance in children with BECTS.

Tacke M, Gerstl L, Heinen F, Heukaeufer I, Bonfert M, Bast T, Cornell S, Neubauer BA, Borggraefe I; German HEAD Study group.

Eur J Paediatr Neurol. 2016 Nov;20(6):874-879. doi: 10.1016/j.ejpn.2016.07.015. Epub 2016 Jul 25.

PMID:
27553576
34.

Draft Genome Sequence of Lactobacillus delbrueckii Strain #22 Isolated from a Patient with Short Bowel Syndrome and Previous d-Lactic Acidosis and Encephalopathy.

Domann E, Fischer F, Glowatzki F, Fritzenwanker M, Hain T, Zechel-Gran S, Giffhorn-Katz S, Neubauer BA.

Genome Announc. 2016 Jul 28;4(4). pii: e00747-16. doi: 10.1128/genomeA.00747-16.

35.

Idiopathic focal epilepsies: the "lost tribe".

Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M.

Epileptic Disord. 2016 Sep 1;18(3):252-88. doi: 10.1684/epd.2016.0839. Review.

36.

Sphenoid Wing Dysplasia with Pulsatile Exophthalmos in Neurofibromatosis Type 1.

Rommel FR, Spors H, Grzybowski M, Hahn A, Neubauer BA.

Neuropediatrics. 2016 Aug;47(4):278-9. doi: 10.1055/s-0036-1584350. Epub 2016 Jun 9. No abstract available.

PMID:
27280756
37.

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S.

Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6.

38.

Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation.

Koenigstein K, Gramsch C, Kolodziej M, Neubauer BA, Weber A, Lechner S, Hahn A.

Neuropediatrics. 2016 Jun;47(3):197-201. doi: 10.1055/s-0036-1579785. Epub 2016 Apr 11.

PMID:
27064331
39.

Sulcal Artery Syndrome in a 10-Year-Old Boy.

Spors H, Merz C, Dießel J, Dutzmann CM, Neubauer BA, Hahn A.

Neuropediatrics. 2016 Jun;47(3):202-4. doi: 10.1055/s-0036-1579634. Epub 2016 Mar 18. No abstract available.

PMID:
26991050
40.

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium, Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA.

PLoS One. 2016 Mar 18;11(3):e0150426. doi: 10.1371/journal.pone.0150426. eCollection 2016.

41.

Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians.

Strzelczyk A, Zschebek G, Bauer S, Baumgartner C, Grond M, Hermsen A, Kieslich M, Krämer G, Kurlemann G, May TW, Mayer T, Neubauer BA, Pfäfflin M, Plecko B, Ryvlin P, Schubert-Bast S, Stefan H, Trinka E, Knake S, Seifart C, Rosenow F.

Epilepsia. 2016 Apr;57(4):612-20. doi: 10.1111/epi.13337. Epub 2016 Feb 22.

42.

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.

Lal D, Neubauer BA, Toliat MR, Altmüller J, Thiele H, Nürnberg P, Kamrath C, Schänzer A, Sander T, Hahn A, Nothnagel M.

PLoS One. 2016 Jan 20;11(1):e0146040. doi: 10.1371/journal.pone.0146040. eCollection 2016.

43.

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

Schwarz N, Hahn A, Bast T, Müller S, Löffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki AE, Neubauer BA, Lerche H, Hedrich UBS.

J Neurol. 2016 Feb;263(2):334-343. doi: 10.1007/s00415-015-7984-0. Epub 2015 Dec 8.

PMID:
26645390
44.

From Genetics to Genomics: A Short Introduction for Pediatric Neurologists.

Neubauer BA, Lemke JR.

Neuropediatrics. 2016 Jan;47(1):5-11. doi: 10.1055/s-0035-1566448. Epub 2015 Nov 16. Review.

PMID:
26569157
45.

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

Larsen J, Johannesen KM, Ek J, Tang S, Marini C, Blichfeldt S, Kibaek M, von Spiczak S, Weckhuysen S, Frangu M, Neubauer BA, Uldall P, Striano P, Zara F; MAE working group of EuroEPINOMICS RES Consortium, Kleiss R, Simpson M, Muhle H, Nikanorova M, Jepsen B, Tommerup N, Stephani U, Guerrini R, Duno M, Hjalgrim H, Pal D, Helbig I, Møller RS.

Epilepsia. 2015 Dec;56(12):e203-8. doi: 10.1111/epi.13222. Epub 2015 Nov 5.

46.

Costs of epilepsy and cost-driving factors in children, adolescents, and their caregivers in Germany.

Riechmann J, Strzelczyk A, Reese JP, Boor R, Stephani U, Langner C, Neubauer BA, Oberman B, Philippi H, Rochel M, Seeger J, Seipelt P, Oertel WH, Dodel R, Rosenow F, Hamer HM; EpiPaed Study Group.

Epilepsia. 2015 Sep;56(9):1388-97. doi: 10.1111/epi.13089. Epub 2015 Aug 3.

47.

Investigation of GRIN2A in common epilepsy phenotypes.

Lal D, Steinbrücker S, Schubert J, Sander T, Becker F, Weber Y, Lerche H, Thiele H, Krause R, Lehesjoki AE, Nürnberg P, Palotie A, Neubauer BA, Muhle H, Stephani U, Helbig I, Becker AJ, Schoch S, Hansen J, Dorn T, Hohl C, Lüscher N; Epicure consortium; EuroEPINOMICS-CoGIE consortium, von Spiczak S, Lemke JR.

Epilepsy Res. 2015 Sep;115:95-9. doi: 10.1016/j.eplepsyres.2015.05.010. Epub 2015 Jun 2.

PMID:
26220384
48.

Percutaneous minimally invasive fetoscopic surgery for spina bifida aperta. Part III: neurosurgical intervention in the first postnatal year.

Graf K, Kohl T, Neubauer BA, Dey F, Faas D, Wanis FA, Reinges MH, Uhl E, Kolodziej MA.

Ultrasound Obstet Gynecol. 2016 Feb;47(2):158-61. doi: 10.1002/uog.14937.

49.

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.

Lal D, Ruppert AK, Trucks H, Schulz H, de Kovel CG, Kasteleijn-Nolst Trenité D, Sonsma AC, Koeleman BP, Lindhout D, Weber YG, Lerche H, Kapser C, Schankin CJ, Kunz WS, Surges R, Elger CE, Gaus V, Schmitz B, Helbig I, Muhle H, Stephani U, Klein KM, Rosenow F, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Lieb W, Franke A, Strauch K, Gieger C, Schurmann C, Schminke U, Nürnberg P; EPICURE Consortium, Sander T.

PLoS Genet. 2015 May 7;11(5):e1005226. doi: 10.1371/journal.pgen.1005226. eCollection 2015 May.

50.

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR; EuroEPINOMICS Consortium, Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F.

Ann Neurol. 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28.

PMID:
25726841

Supplemental Content

Loading ...
Support Center