genetic epilepsy ORPHA:101998 Rare epilepsy ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy G40
Conditions
Interventions
Group 1: Patients with genetic epilepsies will be observed
no intervention will take place. There will be an observational query of phenotype and treatment response through patient and parental input at unspecified time points over a 10-year period.
Group 2:
no intervention will take place. There will be an observational query of phenotype and treatment response through patient and parental input at unspecified time points over a 10-year period.
This arm
Sponsors
Institut für Rehabilitation, Transition und Palliation von neurologisch kranken Kindern der Paracelsus Medizinischen Privatuniversität Salzburg an der Schön Klinik Vogtareuth
Institut für Rehabilitation, Transition und Palliation von neurologisch kranken Kindern der Paracelsus Medizinischen Privatuniversität Salzburg
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: confirmed diagnosis of genetic epilepsy or related ion channel disease
Exclusion criteria
Exclusion criteria: not applicable
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Registry / Natural history study The PATRE study aims to establish a patientbased database and registry focused on genetic epilepsies. | — |
Secondary
| Measure | Time frame |
|---|---|
| observational cohort study / registry (no secundary outcome) | — |
Countries
Afghanistan, Åland Islands, Albania, Algeria, American Samoa, Andorra, Angola, Anguilla, Antigua & Barbuda, Argentina, Armenia, Aruba, Australia, Austria, Azerbaijan, Bahamas, Bahrain, Bangladesh, Barbados, Belarus, Belgium, Belize, Benin, Bermuda, Bhutan, Bolivia, Bosnia & Herzegovina, Botswana, Brazil, British Indian Ocean Territory, British Virgin Islands, Brunei, Bulgaria, Burkina Faso, Burundi, Cambodia, Cameroon, Canada, Canary Islands, Cape Verde, Cayman Islands, Central African Republic, Chad, Chile, China, Christmas Island, Cocos (Keeling) Islands, Colombia, Comoros, Congo - Brazzaville, Congo - Kinshasa, Cook Islands, Costa Rica, Côte d’Ivoire, Croatia, Cuba, Curaçao, Cyprus, Czechia, Denmark, Diego Garcia, Djibouti, Dominica, Dominican Republic, Ecuador, Egypt, El Salvador, Equatorial Guinea, Eritrea, Estonia, Eswatini, Ethiopia, Falkland Islands, Faroe Islands, Fiji, Finland, France, French Guiana, French Polynesia, Gabon, Gambia, Georgia, Germany, Ghana, Gibraltar, Greece, Greenland, Grenada, Guadeloupe, Guam, Guatemala, Guernsey, Guinea, Guinea-Bissau, Guyana, Haiti, Honduras, Hong Kong SAR China, Hungary, Iceland, India, Indonesia, Iran, Iraq, Ireland, Isle of Man, Israel, Italy, Jamaica, Japan, Jersey, Jordan, Kazakhstan, Kenya, Kiribati, Kosovo, Kuwait, Kyrgyzstan, Laos, Latvia, Lebanon, Lesotho, Liberia, Libya, Liechtenstein, Lithuania, Luxembourg, Macao SAR China, Madagascar, Malawi, Malaysia, Mali, Malta, Marshall Islands, Martinique, Mauritania, Mauritius, Mayotte, Mexico, Micronesia, Moldova, Monaco, Mongolia, Montenegro, Montserrat, Morocco, Mozambique, Myanmar (Burma), Namibia, Nauru, Nepal, Netherlands, New Caledonia, New Zealand, Nicaragua, Niger, Nigeria, Niue, Norfolk Island, Northern Mariana Islands, North Korea, North Macedonia, Norway, Oman, Pakistan, Palau, Palestinian Territories, Panama, Papua New Guinea, Paraguay, Peru, Philippines, Pitcairn Islands, Poland, Portugal, Puerto Rico, Qatar, Réunion, Romania, Russia, Rwanda, Samoa, San Marino, São Tomé & Príncipe, Saudi Arabia, Senegal, Serbia, Serbia and Montenegro, Seychelles, Sierra Leone, Singapore, Slovakia, Slovenia, Solomon Islands, Somalia, South Africa, South Korea, Spain, Sri Lanka, St. Barthélemy, St. Helena, St. Kitts & Nevis, St. Lucia, St. Martin, St. Pierre & Miquelon, St. Vincent & Grenadines, Sudan, Suriname, Svalbard & Jan Mayen, Sweden, Switzerland, Syria, Taiwan, Tajikistan, Tanzania, Thailand, Timor-Leste, Togo, Tokelau, Tonga, Trinidad & Tobago, Tunisia, Turkey, Turkmenistan, Turks & Caicos Islands, Tuvalu, Uganda, Ukraine, United Arab Emirates, United Kingdom, United States, Uruguay, U.S. Outlying Islands, U.S. Virgin Islands, Uzbekistan, Vanuatu, Vatican City, Venezuela, Vietnam, Wallis & Futuna, Western Sahara, Yemen, Zambia, Zimbabwe
Contacts
Public ContactKirsten Eschermann
Institut für Rehabilitation, Transition und Palliation von neurologisch kranken Kindern der Paracelsus Medizinischen Privatuniversität Salzburg an der Schön Klinik Vogtareuth
Outcome results
None listed