title: A possible role of dystrophin in neuronal excitability: a review of the current literature.
abstract: Duchenne muscular dystrophy (DMD) is a recessive hereditary form of muscular dystrophy caused by a mutation in the dystrophin gene on the X chromosome. Clinical observations show that in addition to progressive muscular degeneration, DMD is more often accompanied by neurocognitive symptoms and learning disabilities, especially in automatisation of reading, attention processes, and expressive language skills. Additionally, three studies reported a higher prevalence of epilepsy in DMD, suggesting that the absence of dystrophin might be related to increased CNS excitability. In this article, we aim to review current clinical and experimental evidence for a potential role of brain dystrophin in seizure generation.
authors: Department of Neurology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands. Electronic address: hendriksen.ruben@gmail.com.
authors: Ruben G F
authors: RG
authors: Hendriksen
authors: Department of Neurosurgery, Maastricht University Medical Centre, P. Debyelaan 25, 6202 AZ Maastricht, The Netherlands; School for Mental Health & Neuroscience, Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands. Electronic address: g.hoogland@maastrichtuniversity.nl.
authors: Govert
authors: G
authors: Hoogland
authors: School for Mental Health & Neuroscience, Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands. Electronic address: s.schipper@maastrichtuniversity.nl.
authors: Sandra
authors: S
authors: Schipper
authors: Kempenhaeghe, Centre of Neurological Learning Disabilities, Sterkselseweg 65, 5591 VE Heeze, The Netherlands; Department of Neurology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands. Electronic address: hendriksenj@kempenhaeghe.nl.
authors: Jos G M
authors: JG
authors: Hendriksen
authors: Department of Neurology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands; Kempenhaeghe, Centre of Neurological Learning Disabilities, Sterkselseweg 65, 5591 VE Heeze, The Netherlands. Electronic address: jsh.vles@mumc.nl.
authors: Johan S H
authors: JS
authors: Vles
authors: Department of Neurology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands; School for Mental Health & Neuroscience, Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands. Electronic address: mwaalbers@gmail.com.
authors: Marlien W
authors: MW
authors: Aalbers
mesh_terms: D000818:Animals; D001921:Brain / Q000503:physiopathology*; D016189:Dystrophin / Q000235:genetics / Q000378:metabolism*; D004827:Epilepsy / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D009132:Muscles / Q000503:physiopathology; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000503:physiopathology*; D009474:Neurons / Q000502:physiology*
chemical_list: D016189:Dystrophin
keywords: Duchenne muscular dystrophy; Dystrophin; Epilepsy; Seizures