Logo of University of Cologne

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:

  1. proband affected by either CAE, JAE, JME or EGTCS (see diagnostic criteria)
  2. one or more siblings with IGE
  3. both parents, if available, or sufficient siblings to reconstruct the missing parental genotypes
  4. extension towards additional affected family members and their first-degree relatives

Inclusion criteria for FS-multiplex families:

  1. proband affected by FS, irrespectively from the presence of afebrile seizures (see diagnostic criteria)
  2. one or more siblings with FS
  3. both parents, if available, or sufficient siblings to reconstruct the missing parental genotypes
  4. extension towards additional affected family members and their first-degree relatives

Inclusion criteria for PPR-multiplex families:

  1. proband affected by PPR type3-4, irrespectively from the presence of seizures (see diagnostic criteria)
  2. one or more siblings with PPR (type 1-4)
  3. both parents, if available, or sufficient siblings to reconstruct the missing parental genotypes
  4. 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)

  1. typical absence seizures (brief spells of impaired consciousness)
  2. begin of the epilepsy with absence seizures
  3. daily clusters (pyknoleptic) of absence seizures during the course of the epilepsy
  4. age-of-onset between 3 - 12 years

Juvenile Absence-Epilepsy (JAE)

  1. typical absence seizures (brief spells of impaired consciousness)
  2. begin of the epilepsy with absence seizures
  3. only sporadic (spanioleptic) absence seizures during the course of the epilepsy
  4. age-of-onset between 8 - 20 years

Juvenile Myoklonic Epilepsy (JME)

  1. bilateral synchronous irregular myoclonic jerks of the upper arms and shoulders without loss of consciousness, typically upon awakening
  2. age-of-onset between 8 - 20 years

Epilepsie with GTCS on Awakening (EGMA)

  1. at least two unprovoced generalised tonic-clonic seizures (GTCS)
  2. at least 2/3 of the seizures occuring within the first hour of awakening
  3. age-of-onset between 6 - 30 years

Epilepsie with GTCS (EGTCS)

  1. at least two unprovoced generalised tonic-clonic seizures (GTCS)
  2. age-of-onset between 6 - 30 years

General Inclusion Criteria:

  1. normal intelligence and psychomotoric development
  2. normal neurologic examination status
  3. EEG: generalised spike-wave discharges (2.5–5 Hz), normal background activity

General Exclusion Criteria:

  1. structural, metabolic or degenerative brain disorders
  2. mental retardation
  3. tonic, focal seizures, atypical or complex (major myoclonic component) absences
  4. exclusively stimulus-induced seizures

 

Phenotyping protocols

  1. Febrile_seizure_phenotyping_protocol.doc
  2. IGE_phenotyping_protocol.doc
  3. PPR_phenotyping_protocol.doc