Channelopathies are a group of diseases caused by the dysfunction of ion channel subunits or their interacting proteins. These diseases can be inherited or acquired by other disorders, drugs, or toxins. Mutations in genes encoding ion channels, which impair channel function, are the most common cause of channelopathies. There are more than 400 genes that encode ion channels, found in all human cell types and are involved in almost all physiological processes. Each type of channel is a multimeric complex of subunits encoded by a number of genes. Depending where the mutation occurs it may affect the gating, conductance, ion selectivity, or signal transduction of the channel.
Frederick Andermann was a Canadian neurologist and epileptologist.
Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where affected individuals can exhibit numerous epilepsy phenotypes. GEFS+ can persist beyond early childhood. GEFS+ is also now believed to encompass three other epilepsy disorders: severe myoclonic epilepsy of infancy (SMEI), which is also known as Dravet's syndrome, borderline SMEI (SMEB), and intractable epilepsy of childhood (IEC). There are at least six types of GEFS+, delineated by their causative gene. Known causative gene mutations are in the sodium channel α subunit genes SCN1A, an associated β subunit SCN1B, and in a GABAA receptor γ subunit gene, in GABRG2 and there is another gene related with calcium channel the PCDH19 which is also known as Epilepsy Female with Mental Retardation. Penetrance for this disorder is estimated at 60%.
Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever. It is very difficult to treat with anticonvulsant medications. It often begins before one year of age, with six months being the age that seizures, characterized by prolonged convulsions and triggered by fever, usually begin.
Suzanne Cory is an Australian molecular biologist. She has worked on the genetics of the immune system and cancer and has lobbied her country to invest in science. She is married to fellow scientist Jerry Adams, also a WEHI scientist, whom she met while studying for her PhD at the University of Cambridge, England.
Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.
Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene.
Lynette Grant Sadleir is a New Zealand paediatric neurologist and epileptologist, and a former synchronised swimmer and coach.
Sleep-related hypermotor epilepsy (SHE), previously known as nocturnal frontal lobe epilepsy, is a form of focal epilepsy characterized by seizures which arise during sleep. The seizures are most typically characterized by complex motor behaviors. It is a relatively uncommon form of epilepsy that constitutes approximately 9-13% of cases. This disorder is associated with cognitive impairment in at least half of patients as well as excessive daytime sleepiness due to poor sleep quality. This disorder is sometimes misdiagnosed as a non-epileptic sleep disorder. There are many potential causes of SHE including genetic, acquired injuries and structural abnormalities.
Professor Samuel Frank Berkovic is an Australian neurologist and Laureate Professor in the Department of Medicine, University of Melbourne and Director of the Epilepsy Research Centre at Austin Health.
Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9), is a rare type of epilepsy that affects predominately females and is characterized by clusters of brief seizures, which start in infancy or early childhood, and is occasionally accompanied by varying degrees of cognitive impairment. The striking pattern of onset seizures at a young age, genetic testing and laboratory results, potential developmental delays or developmental regression and associated disorders, eases diagnosis.
David Benjamin Goldstein is an American human geneticist. Goldstein is founding Director of the Institute for Genomic Medicine at the Columbia University Medical Center, Professor of Genetics and Development and directs the genomics core of Epi4K and administrative cores of Epi4K with Dan Lowenstein and Sam Berkovic.
Nagwa Abdel Meguid is an Egyptian geneticist and 2002 winner of the L’Oreal UNESCO Award for Women in Science for Africa and the Middle East. Her research has "identified several genetic mutations that cause common syndromes such as the fragile X syndrome and Autism".
Christopher A. Walsh is the Bullard Professor of Neurology at Harvard Medical School, Chief of the Division of Genetics at Children's Hospital Boston, Investigator of the Howard Hughes Medical Institute, and the former Director of the Harvard–MIT MD–PhD Program. His research focuses on genetics of human cortical development and somatic mutations contributions to human brain diseases.
Charlotte Dravet is a French paediatric psychiatrist and epileptologist.
Dimitri Michael Kullmann is a British neurologist who is a professor of neurology at the UCL Institute of Neurology, University College London (UCL), and leads the synaptopathies initiative funded by the Wellcome Trust. Kullmann is a member of the Queen Square Institute of Neurology Department of Clinical and Experimental Epilepsy and a consultant neurologist at the National Hospital for Neurology and Neurosurgery.
Jean-Louis Mandel, born in Strasbourg on February 12, 1946, is a French medical doctor and geneticist, and heads a research team at the Institute of Genetics and Molecular and Cellular Biology (IGBMC). He has been in charge of the genetic diagnosis laboratory at the University Hospitals of Strasbourg since 1992, as well as a professor at the Collège de France since 2003.
The Cannabinoid Research Initiative of Saskatchewan (CRIS) was founded in 2017 as an interdisciplinary research team of clinician researchers (medical and veterinary), basic scientists, and social scientists. CRIS aims to obtain scientific evidence about the application of Cannabinoids and Medical cannabis to humans and animals, for health, disease and disorders. The team was initially based at the University of Saskatchewan, in Saskatoon, Saskatchewan, Canada but includes researchers based at the University of Regina and University of Alberta. A strategic management executive committee coordinates activities and develops research opportunities. The sections of CRIS include: Analytical Evaluations, Human Clinical Studies, Biomedical studies, Veterinary Sciences, Knowledge Translation and Studies of Cannabinoids and Society. CRIS members participate in the Canadian Consortium for the Investigation of Cannabinoids, and the International Cannabinoid Research Society.
Lori L. Isom is an American pharmacologist, an elected Fellow of the American Association for the Advancement of Science, and a member of the National Academy of Medicine.
Grant Robert Sutherland is a retired Australian human geneticist and celebrated cytogeneticist. He was the Director, Department of Cytogenetics and Molecular Genetics, Adelaide Women's and Children's Hospital for 27 years (1975-2002), then became the Foundation Research Fellow there until 2007. He is an Emeritus Professor in the Departments of Paediatrics and Genetics at the University of Adelaide.
