Infantile Spasms (West Syndrome)

Description: West Syndrome is a age dependent mixer of infantile spasm, mental retardation and EEG change that show hypsarrythmia.

Other Names & Associated Gene Mutations

  • Infantile spasms
  • Generalized Flexion Epilepsy
  • Infantile Epileptic Encephalopathy
  • Infantile Myoclonic Encephalopathy
  • Jackknife convulsions
  • Massive Myoclonia
  • Salaam spasms

    • Associated Genetic Mutation

    Unfortunately at this time there is no widely accepted genetic marker; however, association with MECP2, ARX, CDKL5, and FOXG1, Rhett’s syndrome, infantile spasms

    Useful Links & Associated Physicians

    1)      URL:http://www.ncbi.nlm.nih.gov/pubmed/12887441

    Associated Physicians:

    -          Dr. GiuseppeCapovilla, Dr. Francesco Beccaria, Dr.Allesandra Montagnini: Department of Child Neuropsychiatry, “C. Poma” Hospital, Viale Albertoni 1, 46100 Mantova, Italy

    -          Dr. Raffaella Cusmai: Department of Neurology, Bambino Ges`u Children’s Hospital, Rome

    -          Dr. Emilio Franzoni: Department of Neuropediatrics, S.Orsola-Malpighi Hospital, Bologna

    -          Dr.Rima Nabbout: Department of Neuropediatrics, Hospital St. Vincent de Paul, Paris, France

    -          Dr. Giuseppe Gobbi: Department of Child Neuropsychiatry, Maggiore Hospital, Bologna

    2)      URL:http://www.ncbi.nlm.nih.gov/pubmed/15813352

    Associated Physicians:

    - Dr Romana Gjergja, Dr. LCvitanovic-Sojat, Dr. Z. Sabol, Dr. TF Hajnzić, Dr. T. Sojat: Klinika za pedijatriju, Klinicka bolnica Sestre milosrdnice , Zagreb, Hrvatska

    3)      URL:http://www.ncbi.nlm.nih.gov/pubmed/17519870

    Associated Physicians:

    - Dr. Alberto Verrotti: Department of Pediatrics, University of Chieti, Chieti, Italy