ILAE genetics commission conference report: molecular analysis of complex genetic epilepsies.

نویسندگان

  • E Anderson
  • S Berkovic
  • O Dulac
  • M Gardiner
  • S Jain
  • M Laue Friis
  • D Lindhout
  • J Noebels
  • R Ottman
  • A Scaramelli
  • J Serratosa
  • O Steinlein
  • G Avanzini
  • J Bailey-Wilson
  • L Cardon
  • R Fischbach
  • K Gwinn-Hardy
  • M Leppert
  • J Ott
  • K Lindblad-Toh
  • K Weiss
چکیده

Benign familial neonatal convulsions 20q13 KCNQ2 (1–3) 8q24 KCNQ3 (4,5) Childhood absence epilepsy 8q24 ? (6,7) AD Juvenile myoclonic epilepsy 6p21 ? (8–14) 5q14 ? (15,16) 5q34 GABRA1 (17) Adolescent-onset idiopathic generalized epilepsies 8p12 ? (14,18) 18q12 ? (14) 5p ? (14) Idiopathic generalized epilepsy 3q26 ? (19) 14q23 ? (19) 2q36 ? (19) Benign familial infantile convulsions 19q ? (20) 16p ? (21,22) 2q24 ? (23) Familial AR idiopathic myoclonic epilepsy of infancy 16p13 ? (24) Familial adult myoclonic epilepsy 8q24 ? (25) AD partial epilepsy with auditory features 10q24 LGI1 (26–31) AD nocturnal frontal lobe epilepsy 20q13 CHRNA4 (32,33) 1q CHRNB2 (34,35) 15q24 ? (36) Benign epilepsy of childhood with centrotemporal spikes 15q14 ? (37) Familial partial epilepsy with variable foci 22q11-12 ? (38) Generalized epilepsy with febrile seizures plus 19q13 SCN1B (39) 2q24 SCN1A (40–44) 2q24 SCN2A (40–43,45) 5q34 GABRG2 (46,47) AD febrile seizures 8q13 ? (48) 19p ? (49,50) 5q14-15 ? (51) Epilepsia, 43(12):1600–1602, 2002 Blackwell Publishing, Inc. © International League Against Epilepsy

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عنوان ژورنال:
  • Epilepsia

دوره 43 10  شماره 

صفحات  -

تاریخ انتشار 2002