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Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
Published in:
Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.663643
By:
- Bayat, Allan;
- Pendziwiat, Manuela;
- Obersztyn, Ewa;
- Goldenberg, Paula;
- Zacher, Pia;
- Döring, Jan Henje;
- Syrbe, Steffen;
- Begtrup, Amber;
- Borovikov, Artem;
- Sharkov, Artem;
- Karasińska, Aneta;
- Giżewska, Maria;
- Mitchell, Wendy;
- Morava, Eva;
- Møller, Rikke S.;
- Rubboli, Guido
Publication type:
Article
Initial anticonvulsant monotherapy in routine care of children and adolescents: levetiracetam fails more frequently than valproate and oxcarbazepine due to a lack of effectiveness.
Published in:
European Journal of Pediatrics, 2014, v. 173, n. 1, p. 87, doi. 10.1007/s00431-013-2125-1
By:
- Bertsche, Astrid;
- Neininger, Martina;
- Dahse, Anna;
- Syrbe, Steffen;
- Bernhard, Matthias;
- Frontini, Roberto;
- Kiess, Wieland;
- Bertsche, Thilo;
- Merkenschlager, Andreas
Publication type:
Article
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5182, doi. 10.1093/brain/awad287
By:
- Xian, Julie;
- Thalwitzer, Kim Marie;
- McKee, Jillian;
- Sullivan, Katie Rose;
- Brimble, Elise;
- Fitch, Eryn;
- Toib, Jonathan;
- Kaufman, Michael C;
- deCampo, Danielle;
- Cunningham, Kristin;
- Pierce, Samuel R;
- Goss, James;
- Rigby, Charlene Son;
- Syrbe, Steffen;
- Boland, Michael;
- Prosser, Benjamin;
- Fitter, Nasha;
- Ruggiero, Sarah M;
- Helbig, Ingo
Publication type:
Article
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Published in:
2022
By:
- Ahring, Philip K;
- Liao, Vivian W Y;
- Gardella, Elena;
- Johannesen, Katrine M;
- Krey, Ilona;
- Selmer, Kaja K;
- Stadheim, Barbro F;
- Davis, Hannah;
- Peinhardt, Charlotte;
- Koko, Mahmoud;
- Coorg, Rohini K;
- Syrbe, Steffen;
- Bertsche, Astrid;
- Santiago-Sim, Teresa;
- Diemer, Tue;
- Fenger, Christina D;
- Platzer, Konrad;
- Eichler, Evan E;
- Lerche, Holger;
- Lemke, Johannes R
Publication type:
journal article
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Published in:
2021
By:
- Bonardi, Claudia M;
- Heyne, Henrike O;
- Fiannacca, Martina;
- Fitzgerald, Mark P;
- Gardella, Elena;
- Gunning, Boudewijn;
- Olofsson, Kern;
- Lesca, Gaétan;
- Verbeek, Nienke;
- Stamberger, Hannah;
- Striano, Pasquale;
- Zara, Federico;
- Mancardi, Maria M;
- Nava, Caroline;
- Syrbe, Steffen;
- Buono, Salvatore;
- Baulac, Stephanie;
- Coppola, Antonietta;
- Weckhuysen, Sarah;
- Schoonjans, An-Sofie
Publication type:
journal article
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Published in:
2021
By:
- Vetro, Annalisa;
- Nielsen, Hang N;
- Holm, Rikke;
- Hevner, Robert F;
- Parrini, Elena;
- Powis, Zoe;
- Møller, Rikke S;
- Bellan, Cristina;
- Simonati, Alessandro;
- Lesca, Gaétan;
- Helbig, Katherine L;
- Palmer, Elizabeth E;
- Mei, Davide;
- Ballardini, Elisa;
- Haeringen, Arie Van;
- Syrbe, Steffen;
- Leuzzi, Vincenzo;
- Cioni, Giovanni;
- Curry, Cynthia J;
- Costain, Gregory
Publication type:
journal article
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Published in:
2019
By:
- Duc, Diana Le;
- Giulivi, Cecilia;
- Hiatt, Susan M;
- Napoli, Eleonora;
- Panoutsopoulos, Alexios;
- Crescenzo, Angelo Harlan De;
- Kotzaeridou, Urania;
- Syrbe, Steffen;
- Anagnostou, Evdokia;
- Azage, Meron;
- Bend, Renee;
- Begtrup, Amber;
- Brown, Natasha J;
- Büttner, Benjamin;
- Cho, Megan T;
- Cooper, Gregory M;
- Doering, Jan H;
- Dubourg, Christèle;
- Everman, David B;
- Hildebrand, Michael S
Publication type:
journal article
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Published in:
2017
By:
- Syrbe, Steffen;
- Harms, Frederike L.;
- Parrini, Elena;
- Montomoli, Martino;
- Mütze, Ulrike;
- Helbig, Katherine L.;
- Polster, Tilman;
- Albrecht, Beate;
- Bernbeck, Ulrich;
- van Binsbergen, Ellen;
- Biskup, Saskia;
- Burglen, Lydie;
- Denecke, Jonas;
- Heron, Bénédicte;
- Heyne, Henrike O.;
- Hoffmann, Georg F.;
- Hornemann, Frauke;
- Takeshi Matsushige;
- Ryuki Matsuura;
- Mitsuhiro Kato
Publication type:
journal article
Refining Genotypes and Phenotypes in KCNA2 -Related Neurological Disorders.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2824, doi. 10.3390/ijms22062824
By:
- Döring, Jan H.;
- Schröter, Julian;
- Jüngling, Jerome;
- Biskup, Saskia;
- Klotz, Kerstin A.;
- Bast, Thomas;
- Dietel, Tobias;
- Korenke, G. Christoph;
- Christoph, Sophie;
- Brennenstuhl, Heiko;
- Rubboli, Guido;
- Møller, Rikke S.;
- Lesca, Gaetan;
- Chaix, Yves;
- Kölker, Stefan;
- Hoffmann, Georg F.;
- Lemke, Johannes R.;
- Syrbe, Steffen;
- Imbrici, Paola
Publication type:
Article
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Published in:
Human Genetics, 2023, v. 142, n. 4, p. 543, doi. 10.1007/s00439-023-02528-2
By:
- Schnabel, Franziska;
- Schuler, Elisabeth;
- Al-Maawali, Almundher;
- Chaurasia, Ankur;
- Syrbe, Steffen;
- Al-Kindi, Adila;
- Bhavani, Gandham SriLakshmi;
- Shukla, Anju;
- Altmüller, Janine;
- Nürnberg, Peter;
- Banka, Siddharth;
- Girisha, Katta M.;
- Li, Yun;
- Wollnik, Bernd;
- Yigit, Gökhan
Publication type:
Article
Seizure disorders and developmental disorders: impact on life of affected families-a structured interview.
Published in:
2017
By:
- Spindler, Ulrike;
- Hotopp, Lena;
- Bach, Vivien;
- Hornemann, Frauke;
- Syrbe, Steffen;
- Andreas, Anna;
- Merkenschlager, Andreas;
- Kiess, Wieland;
- Bernhard, Matthias;
- Bertsche, Thilo;
- Neininger, Martina;
- Bertsche, Astrid;
- Spindler, Ulrike Petra;
- Hotopp, Lena Charlott;
- Bach, Vivien Angela;
- Bernhard, Matthias Karl;
- Neininger, Martina Patrizia
Publication type:
journal article
Administration of anticonvulsive rescue medication in children-discrepancies between parents' self-reports and limited practical performance.
Published in:
2016
By:
- Kaune, Almuth;
- Schumacher, Pia;
- Hoppe, Sabine;
- Syrbe, Steffen;
- Bernhard, Matthias;
- Frontini, Roberto;
- Merkenschlager, Andreas;
- Kiess, Wieland;
- Neininger, Martina;
- Bertsche, Astrid;
- Bertsche, Thilo;
- Schumacher, Pia Madeleine;
- Hoppe, Sabine Christine;
- Bernhard, Matthias Karl;
- Neininger, Martina Patrizia
Publication type:
journal article
Long‐term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63508
By:
- Hofmann, Christoph;
- Syrbe, Steffen;
- Hebe, Joachim;
- Kreft, Jannis;
- Stark, Sebastian;
- Milde, Till;
- Völkers, Mirko;
- Hoffmann, Georg Friedrich;
- Gorenflo, Matthias;
- Kovacevic, Alexander
Publication type:
Article
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Published in:
Nature Genetics, 2015, v. 47, n. 4, p. 393, doi. 10.1038/ng.3239
By:
- Syrbe, Steffen;
- Bertsche, Astrid;
- Bernhard, Matthias K;
- Merkenschlager, Andreas;
- Kiess, Wieland;
- Serratosa, José M;
- Nothnagel, Michael;
- May, Patrick;
- Krause, Roland;
- Dorn, Thomas;
- Vogt, Heinrich;
- Krämer, Günter;
- Mullis, Primus E;
- Linnankivi, Tarja;
- Lehesjoki, Anna-Elina;
- Sterbova, Katalin;
- Craiu, Dana C;
- Hoffman-Zacharska, Dorota;
- Hedrich, Ulrike B S;
- Müller, Stephan
Publication type:
Article
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients.
Published in:
2020
By:
- Jarius, Sven;
- Lechner, Christian;
- Wendel, Eva M.;
- Baumann, Matthias;
- Breu, Markus;
- Schimmel, Mareike;
- Karenfort, Michael;
- Marina, Adela Della;
- Merkenschlager, Andreas;
- Thiels, Charlotte;
- Blaschek, Astrid;
- Salandin, Michela;
- Leiz, Steffen;
- Leypoldt, Frank;
- Pschibul, Alexander;
- Hackenberg, Annette;
- Hahn, Andreas;
- Syrbe, Steffen;
- Strautmanis, Jurgis;
- Häusler, Martin
Publication type:
journal article
Signs and symptoms of pediatric brain tumors and diagnostic value of preoperative EEG.
Published in:
Child's Nervous System, 2015, v. 31, n. 11, p. 2051, doi. 10.1007/s00381-015-2842-z
By:
- Preuß, Matthias;
- Preiss, Sophia;
- Syrbe, Steffen;
- Nestler, Ulf;
- Fischer, Lars;
- Merkenschlager, Andreas;
- Bertsche, Astrid;
- Christiansen, Holger;
- Bernhard, Matthias
Publication type:
Article
Children with multiphasic disseminated encephalomyelitis and antibodies to the myelin oligodendrocyte glycoprotein (MOG): Extending the spectrum of MOG antibody positive diseases.
Published in:
Multiple Sclerosis Journal, 2016, v. 22, n. 14, p. 1821, doi. 10.1177/1352458516631038
By:
- Baumann, Matthias;
- Strautmanis, Jurgis;
- Syrbe, Steffen;
- Vieker, Silvia;
- Höftberger, Romana;
- Rostásy, Kevin;
- Hennes, Eva-Maria;
- Schanda, Kathrin;
- Reindl, Markus;
- Karenfort, Michael;
- Kornek, Barbara;
- Seidl, Rainer;
- Diepold, Katharina;
- Lauffer, Heinz;
- Marquardt, Iris
Publication type:
Article
A large and diverse brain organoid dataset of 1,400 cross-laboratory images of 64 trackable brain organoids.
Published in:
Scientific Data, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41597-024-03330-z
By:
- Schröter, Julian;
- Deininger, Luca;
- Lupse, Blaz;
- Richter, Petra;
- Syrbe, Steffen;
- Mikut, Ralf;
- Jung-Klawitter, Sabine
Publication type:
Article
Developmental and epileptic encephalopathies – therapeutic consequences of genetic testing.
Published in:
Medizinische Genetik, 2022, v. 34, n. 3, p. 215, doi. 10.1515/medgen-2022-2145
By:
- Syrbe, Steffen
Publication type:
Article
Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02697-3
By:
- Maltseva, Margarita;
- Schubert-Bast, Susanne;
- Zöllner, Johann Philipp;
- Bast, Thomas;
- Mayer, Thomas;
- von Spiczak, Sarah;
- Ruf, Susanne;
- Trollmann, Regina;
- Wolff, Markus;
- Hornemann, Frauke;
- Klotz, Kerstin A.;
- Jacobs, Julia;
- Kurlemann, Gerhard;
- Neubauer, Bernd A.;
- Polster, Tilman;
- Syrbe, Steffen;
- Bertsche, Astrid;
- Bettendorf, Ulrich;
- Kluger, Gerhard;
- Flege, Silke
Publication type:
Article
Epilepsy surgery in early infancy: A retrospective, multicenter study.
Published in:
Epilepsia Open, 2023, v. 8, n. 3, p. 1182, doi. 10.1002/epi4.12791
By:
- Makridis, Konstantin L.;
- Klotz, Kerstin Alexandra;
- Ramantani, Georgia;
- Becker, Lena‐Luise;
- San Antonio‐Arce, Victoria;
- Syrbe, Steffen;
- Wagner, Kathrin;
- Shah, Mukesch Johannes;
- Thomale, Ulrich‐Wilhelm;
- Tietze, Anna;
- Elger, Christian E.;
- Borggraefe, Ingo;
- Kaindl, Angela M.
Publication type:
Article
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
Published in:
JAMA Neurology, 2017, v. 74, n. 10, p. 1228, doi. 10.1001/jamaneurol.2017.1714
By:
- de Kovel, Carolien G. F.;
- Syrbe, Steffen;
- Brilstra, Eva H.;
- Verbeek, Nienke;
- Kerr, Bronwyn;
- Dubbs, Holly;
- Bayat, Allan;
- Desai, Sonal;
- Naidu, Sakkubai;
- Srivastava,, Siddharth;
- Cagaylan, Hande;
- Uluc Yis;
- Saunders, Carol;
- Rook, Martin;
- Plugge, Susanna;
- Muhle, Hiltrud;
- Afawi, Zaid;
- Klein, Karl-Martin;
- Jayaraman, Vijayakumar;
- Rajagopalan, Ramakrishnan
Publication type:
Article
Early life seizures and epileptic spasms in STXBP1‐related disorders.
Published in:
Epilepsia (Series 4), 2024, v. 65, n. 3, p. 805, doi. 10.1111/epi.17886
By:
- Thalwitzer, Kim M.;
- Xian, Julie;
- de Campo, Danielle;
- Parthasarathy, Shridhar;
- Magielski, Jan;
- Sullivan, Katie R.;
- Goss, James;
- Rigby, Charlene Son;
- Boland, Michael;
- Prosser, Ben;
- Ruggiero, Sarah M.;
- Syrbe, Steffen;
- Helbig, Ingo
Publication type:
Article
Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany.
Published in:
Epilepsia (Series 4), 2024, v. 65, n. 1, p. 115, doi. 10.1111/epi.17799
By:
- Maltseva, Margarita;
- Rosenow, Felix;
- Schubert‐Bast, Susanne;
- Flege, Silke;
- Wolff, Markus;
- von Spiczak, Sarah;
- Trollmann, Regina;
- Syrbe, Steffen;
- Ruf, Susanne;
- Polster, Tilman;
- Neubauer, Bernd A.;
- Mayer, Thomas;
- Jacobs, Julia;
- Kurlemann, Gerhard;
- Kluger, Gerhard;
- Klotz, Kerstin A.;
- Kieslich, Matthias;
- Kay, Lara;
- Hornemann, Frauke;
- Bettendorf, Ulrich
Publication type:
Article
Epilepsy surgery: Late seizure recurrence after initial complete seizure freedom.
Published in:
Epilepsia (Series 4), 2021, v. 62, n. 5, p. 1092, doi. 10.1111/epi.16893
By:
- Petrik, Stephan;
- San Antonio‐Arce, Victoria;
- Steinhoff, Bernhard J.;
- Syrbe, Steffen;
- Bast, Thomas;
- Scheiwe, Christian;
- Brandt, Armin;
- Beck, Juergen;
- Schulze‐Bonhage, Andreas
Publication type:
Article
Parental mosaicism in epilepsies due to alleged de novo variants.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 6, p. e63, doi. 10.1111/epi.15187
By:
- Møller, Rikke S.;
- Zacher, Pia;
- Syrbe, Steffen;
- Liebmann, Nora;
- Stiller, Mathias;
- Hentschel, Julia;
- Lemke, Johannes R.;
- Larsen, Line H. G.;
- Kako, Nahrain;
- Dahl, Hans A.;
- Abdin, Dalia;
- Di Donato, Nataliya;
- Pal, Deb K.
Publication type:
Article
Sweaty feet in adolescents—Early use of botulinum type A toxin in juvenile plantar hyperhidrosis.
Published in:
Pediatric Dermatology, 2018, v. 35, n. 6, p. 784, doi. 10.1111/pde.13628
By:
- Bernhard, Matthias K.;
- Krause, Matthias;
- Syrbe, Steffen
Publication type:
Article
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
Published in:
Science Translational Medicine, 2020, v. 12, n. 556, p. 1, doi. 10.1126/scitranslmed.aay6848
By:
- Heyne, Henrike O.;
- Baez-Nieto, David;
- Iqbal, Sumaiya;
- Palmer, Duncan S.;
- Brunklaus, Andreas;
- May, Patrick;
- Johannesen, Katrine M.;
- Lauxmann, Stephan;
- Lemke, Johannes R.;
- Møller, Rikke S.;
- Pérez-Palma, Eduardo;
- Scholl, Ute I.;
- Syrbe, Steffen;
- Lerche, Holger;
- Lal, Dennis;
- Campbell, Arthur J.;
- Wang, Hao-Ran;
- Pan, Jen;
- Daly, Mark J.
Publication type:
Article
Reply.
Published in:
2016
By:
- Gardella, Elena;
- Beniczky, Sándor;
- Møller, Rikke S.;
- Becker, Felicitas;
- Lemke, Johannes R.;
- Syrbe, Steffen;
- Eiberg, Hans;
- Bast, Thomas;
- Steinhoff, Bernhard;
- Nürnberg, Peter;
- Gellert, Pia;
- Dahl, Hans Atli;
- Weckhuysen, Sarah;
- Heron, Sarah E.;
- Dibbens, Leanne M.;
- Hjalgrim, Helle;
- Lerche, Holger;
- Weber, Yvonne G.;
- Beniczky, Sándor;
- Møller, Rikke S
Publication type:
Letter
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Published in:
2016
By:
- Gardella, Elena;
- Becker, Felicitas;
- Møller, Rikke S.;
- Schubert, Julian;
- Lemke, Johannes R.;
- Larsen, Line H. G.;
- Eiberg, Hans;
- Nothnagel, Michael;
- Thiele, Holger;
- Altmüller, Janine;
- Syrbe, Steffen;
- Merkenschlager, Andreas;
- Bast, Thomas;
- Steinhoff, Bernhard;
- Nürnberg, Peter;
- Mang, Yuan;
- Bakke Møller, Louise;
- Gellert, Pia;
- Heron, Sarah E.;
- Dibbens, Leanne M.
Publication type:
journal article
High throughput newborn screening for aromatic ʟ‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐O‐methyldopa from dried blood spots.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 602, doi. 10.1002/jimd.12208
By:
- Brennenstuhl, Heiko;
- Kohlmüller, Dirk;
- Gramer, Gwendolyn;
- Garbade, Sven F.;
- Syrbe, Steffen;
- Feyh, Patrik;
- Kölker, Stefan;
- Okun, Jürgen G.;
- Hoffmann, Georg F.;
- Opladen, Thomas
Publication type:
Article
Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.
Published in:
Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.600050
By:
- Ademuwagun, Ibitayo Abigail;
- Rotimi, Solomon Oladapo;
- Syrbe, Steffen;
- Ajamma, Yvonne Ukamaka;
- Adebiyi, Ezekiel
Publication type:
Article
Oral Everolimus for Treatment of a Giant Left Ventricular Rhabdomyoma in a Neonate--Rapid Tumor Regression Documented by Real Time 3D Echocardiography.
Published in:
Echocardiography, 2015, v. 32, n. 12, p. 1876, doi. 10.1111/echo.13015
By:
- Wagner, Robert;
- Riede, Frank Thomas;
- Seki, Hiroshi;
- Hornemann, Frauke;
- Syrbe, Steffen;
- Daehnert, Ingo;
- Weidenbach, Michael
Publication type:
Article
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
Published in:
Human Mutation, 2021, v. 42, n. 9, p. 1094, doi. 10.1002/humu.24245
By:
- Semino, Francesca;
- Schröter, Julian;
- Willemsen, Marjolein H.;
- Bast, Thomas;
- Biskup, Saskia;
- Beck‐Woedl, Stefanie;
- Brennenstuhl, Heiko;
- Schaaf, Christian P.;
- Kölker, Stefan;
- Hoffmann, Georg F.;
- Haack, Tobias B.;
- Syrbe, Steffen
Publication type:
Article
The association of COVID-19 pandemic with the increase of sinogenic and otogenic intracranial infections in children: a 10-year retrospective comparative single-center study.
Published in:
Neurosurgical Review, 2024, v. 47, n. 1, p. 1, doi. 10.1007/s10143-024-02442-9
By:
- Issa, Mohammed;
- Kalliri, Vasiliki;
- Euteneuer, Sara;
- Krümpelmann, Arne;
- Seitz, Angelika;
- Sommerburg, Olaf;
- Westhoff, Jens H.;
- Syrbe, Steffen;
- Lenga, Pavlina;
- Grutza, Martin;
- Scherer, Moritz;
- Neumann, Jan-Oliver;
- Baumann, Ingo;
- Unterberg, Andreas W.;
- El Damaty, Ahmed
Publication type:
Article
Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.
Published in:
Molecular Syndromology, 2016, v. 7, n. 4, p. 239, doi. 10.1159/000448445
By:
- Strehlow, Vincent;
- Swinkels, Marielle E. M.;
- Thomas, Rhys H.;
- Rapps, Nora;
- Syrbe, Steffen;
- Dorn, Thomas;
- Lemke, Johannes R.
Publication type:
Article
Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.
Published in:
Molecular Syndromology, 2016, v. 7, n. 4, p. 189, doi. 10.1159/000447461
By:
- Maljevic, Snezana;
- Vejzovic, Sabina;
- Bernhard, Matthias K.;
- Bertsche, Astrid;
- Weise, Sebastian;
- Döcker, Miriam;
- Lerche, Holger;
- Lemke, Johannes R.;
- Merkenschlager, Andreas;
- Syrbe, Steffen
Publication type:
Article
Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A.
Published in:
Molecular Syndromology, 2016, v. 7, n. 4, p. 182, doi. 10.1159/000447526
By:
- Syrbe, Steffen;
- Zhorov, Boris S.;
- Bertsche, Astrid;
- Bernhard, Matthias K.;
- Hornemann, Frauke;
- Mütze, Ulrike;
- Hoffmann, Jessica;
- Hörtnagel, Konstanze;
- Kiess, Wieland;
- Hirsch, Franz W.;
- Lemke, Johannes R.;
- Merkenschlager, Andreas
Publication type:
Article

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