“…To date more than 200 different L1CAM mutations have been published: 130 of these were reviewed in 2001 (Weller and Gartner, 2001) and another 41 were published subsequently (Simonati et al, 2006;Senat et al, 2001;Sztriha et al, 2002;Rodriguez et al, 2003;Silan et al, 2005;Bott et al, 2004;Okamoto et al, 2004;Hubner et al, 2004;Moya et al, 2002;Panayi et al, 2005b;Tegay et al, 2007;Knops et al, 2008;Griseri et al, 2009;Nakakimura et al, 2008;Wilson et al, 2009;Kanemura et al, 2006;De Angelis et al, 2002;Piccione et al, 2009;Wilson et al, 2009). Moreover 52 novel mutations have been detected in our laboratory and were published recently Most mutations have been compiled in the L1CAM Mutation Database, originally constructed by Van Camp et al (Van Camp et al, 1996) and later continued by our group.…”