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American Journal of Medical Genetics. Part A|July 14, 2006
Trisomy 8q and partial trisomy 22 in a 43-year-old man with moderate intellectual disability, epilepsy and large cell non-Hodgkin lymphomaIngo Helbig, Michael Wirtenberger, Anna Jauch, et al.
Journal of Child Neurology|July 27, 2012
CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patientsJohanna Jähn, Almuth Caliebe, Sarah von Spiczak, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Reliability and Stability of Cerebral Palsy Classification Scales for Individuals with <i>STXBP1</i> Related Disorders and <i>SYNGAP1</i> Related DisordersSamuel R Pierce, Julie M Orlando, Kristin G Cunningham, et al.
American Journal of Physiology. Cell Physiology|January 7, 2011
Physiology, structure, and susceptibility to injury of skeletal muscle in mice lacking keratin 19-based and desmin-based intermediate filamentsRichard M Lovering, Andrea O'Neill, Joaquin M Muriel, et al.
Epilepsia|February 19, 2010
Genetic risk perception and reproductive decision making among people with epilepsyKatherine L Helbig, Barbara A Bernhardt, Laura J Conway, et al.
Molecular and Cellular Neurosciences|June 1, 2010
In vivo evidence for the involvement of the carboxy terminal domain in assembling connexin 36 at the electrical synapseIngo Helbig, Esther Sammler, Marina Eliava, et al.
Epilepsia|October 26, 2022
SCN1A gain-of-function mutation causing an early onset epileptic encephalopathyJérôme Clatot, Shridhar Parthasarathy, Stacey Cohen, et al.
Epilepsy Research|January 29, 2013
15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in BulgariaAndrey Kirov, Petia Dimova, Albena Todorova, et al.
Science (New York, N.Y.)|April 23, 2026
Microtubule dynamics control the direction of cardiomyocyte growthEmily A Scarborough, Rani M Randell, Keita Uchida, et al.
Epilepsia|November 5, 2011
Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndromeHiltrud Muhle, Heather C Mefford, Tanja Obermeier, et al.
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