Sampling Procedure
Sampling Procedures for Linkage Studies
Genome-wide linkage mapping of genes for IGE, FS and PPR. Please note that the same individuals/families can be included in more than one work package!
Inclusion criteria for IGE-multiplex families:
- proband affected by either CAE, JAE, JME or EGTCS (see diagnostic criteria)
- one or more siblings with IGE
- both parents, if available, or sufficient siblings to reconstruct the missing parental genotypes
- extension towards additional affected family members and their first-degree relatives
Inclusion criteria for FS-multiplex families:
- proband affected by FS, irrespectively from the presence of afebrile seizures (see diagnostic criteria)
- one or more siblings with FS
- both parents, if available, or sufficient siblings to reconstruct the missing parental genotypes
- extension towards additional affected family members and their first-degree relatives
Inclusion criteria for PPR-multiplex families:
- proband affected by PPR type3-4, irrespectively from the presence of seizures (see diagnostic criteria)
- one or more siblings with PPR (type 1-4)
- both parents, if available, or sufficient siblings to reconstruct the missing parental genotypes
- extension towards additional affected family members and their first-degree relatives
Sampling Procedures for Association Studies
Please note that the association studies will include both case-control samples as well as parent-child cohorts !
a) Case-Control Design:
Study sample:
IGE-probands: CAE, JAE, JME, EGMA (see diagnostic criteria)
Population controls: healthy individuals from the same ethnic origin (same nation, Caucasian, European origin)
matched according to sex; age > 30 years;
no history of seizures or major neuropsychiatric disorders
if available, provide information about a history of migraine or writer´s cramp (optional)
b) Family-based Studies (parent-child trios)
Preferentially first choice for the European EPICURE confirmation sample.
Child: CAE, JAE, JME, EGMA (see diagnostic criteria)
Parents: both parents (irrespectively of their affection status)
DNA/Blood Sampling
Sample Assignment: anonymous code (Sample ID)
For clinical documentation please refer to Inclusion Criteria and standardised Clinical Documentation sheets.
Blood samples: 10-30 ml EDTA-anticoagulated blood (mix well !!!)
Storage at –20 °C (only thaw before DNA preparation !!!)
DNA samples: 10 µg, standard concentration of 50 ng/µl
Storage at 4 °C or –20 °C Transport: Air mail or Express Courier (at room temperature)
Shipping Address:
Dr. Thomas Sander
Cologne Center for Genomics (CCG), University of Cologne
Weyertal 115b, 50931 Cologne, Germany
Phone: +49 221 478-96800; FAX: -96866
E-mail: thomas.sander@uni-koeln.de
Diagnostic Criteria for IGE-Probands
Childhood Absence Epilepsy (CAE)
- typical absence seizures (brief spells of impaired consciousness)
- begin of the epilepsy with absence seizures
- daily clusters (pyknoleptic) of absence seizures during the course of the epilepsy
- age-of-onset between 3 - 12 years
Juvenile Absence-Epilepsy (JAE)
- typical absence seizures (brief spells of impaired consciousness)
- begin of the epilepsy with absence seizures
- only sporadic (spanioleptic) absence seizures during the course of the epilepsy
- age-of-onset between 8 - 20 years
Juvenile Myoklonic Epilepsy (JME)
- bilateral synchronous irregular myoclonic jerks of the upper arms and shoulders without loss of consciousness, typically upon awakening
- age-of-onset between 8 - 20 years
Epilepsie with GTCS on Awakening (EGMA)
- at least two unprovoced generalised tonic-clonic seizures (GTCS)
- at least 2/3 of the seizures occuring within the first hour of awakening
- age-of-onset between 6 - 30 years
Epilepsie with GTCS (EGTCS)
- at least two unprovoced generalised tonic-clonic seizures (GTCS)
- age-of-onset between 6 - 30 years
General Inclusion Criteria:
- normal intelligence and psychomotoric development
- normal neurologic examination status
- EEG: generalised spike-wave discharges (2.5–5 Hz), normal background activity
General Exclusion Criteria:
- structural, metabolic or degenerative brain disorders
- mental retardation
- tonic, focal seizures, atypical or complex (major myoclonic component) absences
- exclusively stimulus-induced seizures