Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.
Hofmeister, B; von Stulpnagel, C; Betzler, C; Mari, F; Renieri, A; Baldassarri, M; Haberlandt, E; Jansen, K; Schilling, S; Weber, P; Ahlbory, K; Tang, S; Berweck, S; Kluger, G
Neuropediatrics. 2021; 52(2):109-122
Übersichtsarbeiten

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Johannesen, KM; Liu, YY; Gjerulfsen, CE; Koko, M; Sonnenberg, L; Schubert, J; Fenger, CD; Eltokhi, A; Rannap, M; Koch, N; Lauxmann, S; Krueger, J; Kegele, J; Canafoglia, L; Franceschetti, S; Mayer, T; Rebstock, J; Zacher, P; Ruf, S; Alber, M; Sterbova, K; Lassuthova, P; Vlckova, M; Lemke, J; Krey, I; Heine, C; Wieczorek, D; Kroell, J; Lund, C; Klein, KM; Au, PB; Rho, J; Ho, A; Masnada, S; Veggiotti, P; Giordano, L; Accorsi, P; Hoi-Hansen, C; Striano, P; Zara, F; Verhelst, H; Verhoeven, JS; van der Zwaag, B; Harder, A; Brilstra, E; Pendziwiat, M; Lebon, S; Vaccarezza, M; Le, NM; Christensen, J; Schmidt-Petersen, M; Gronborg, S; Scherer, S; Howe, J; Fazeli, W; Howell, K; Leventer, R; Stutterd, C; Walsh, S; Gerard, M; Gerard, B; Matricardi, S; Bonardi, CM; Sartori, S; Berger, A; Hoffman-Zacharska, D; Mastrangelo, M; Darra, F; Vollo, A; Motazacker, MM; Lakeman, P; Nizon, M; Betzler, C; Altuzarra, C; Caumes, R; Roubertie, A; Gelisse, P; Marini, C; Guerrini, R; Bilan, F; Koch-Hogrebe, M; Perry, S; Ichikawa, S; Dadali, E; Sharkov, A; Mishina, I; Abramov, M; Kanivets, I; Korostelev, S; Kutsev, S; Wain, KE; Eisenhauer, N; Wagner, M; Savatt, J; Muller-Schluter, K; Bassan, H; Borovikov, A; Nassogne, MC; Destree, A; Schoonjans, AS; Meuwissen, M; Buzatu, M; Jansen, A; Scalais, E; Srivastava, S; Tan, WH; Olson, H; Loddenkemper, T; Poduri, A; Helbig, KL; Helbig, I; Fitzgerald, M; Goldberg, EM; Roser, T; Borggrafe, I; Brunger, T; May, P; Lal, D; Lederer, D; Rubboli, G; Lesca, G; Hedrich, U; Benda, J; Gardella, E; Lerche, H; Moeller, RS
EPILEPSIA. 2021; 62: 34-36.
Abstracts (Zeitschrift)

Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.
Belohlavkova, A; Sterbova, K; Betzler, C; Burkhard, S; Panzer, A; Wolff, M; Lassuthova, P; Vlckova, M; Kyncl, M; Benova, B; Jahodova, A; Kudr, M; Goerg, M; Dusek, P; Seeman, P; Kluger, G; Krsek, P
EUR J PAEDIATR NEURO. 2020; 28: 81-88.
Originalarbeiten (Zeitschrift)

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Rymen, D; Lindhout, M; Spanou, M; Ashrafzadeh, F; Benkel, I; Betzler, C; Coubes, C; Hartmann, H; Kaplan, JD; Ballhausen, D; Koch, J; Lotte, J; Mohammadi, MH; Rohrbach, M; Dinopoulos, A; Wermuth, M; Willis, D; Brugger, K; Wevers, RA; Boltshauser, E; Bierau, J; Mayr, JA; Wortmann, SB;
Genet Med. 2020; 22(10):1589-1597
Originalarbeiten (Zeitschrift)

Unresponsive Wakefulness Syndrome in Children after Near-Drowning: Long-Term Outcome and Impact on the Families.
Kluger, GJ; Kirsch, A; Hessenauer, M; Aust, H; Berweck, S; Sperl, W; Betzler, C; von Stülpnagel-Steinbeis, C; Staudt, M;
Neuropediatrics. 2019; 50(2):71-79
Originalarbeiten (Zeitschrift)

CAD mutations and uridine-responsive epileptic encephalopathy.
Koch, J; Mayr, JA; Alhaddad, B; Rauscher, C; Bierau, J; Kovacs-Nagy, R; Coene, KL; Bader, I; Holzhacker, M; Prokisch, H; Venselaar, H; Wevers, RA; Distelmaier, F; Polster, T; Leiz, S; Betzler, C; Strom, TM; Sperl, W; Meitinger, T; Wortmann, SB; Haack, TB;
Brain. 2017; 140(Pt 2): 279-286.
Originalarbeiten (Zeitschrift)