The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome von BEN ZEEV, B, BEBBINGTON, A, HO, G, LEONARD, H, DE KLERK, N, GAK, E, VECKSLER, M, CHRISTODOULOU, J

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SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum von Heimer, G., Marek-Yagel, D., Eyal, E., Barel, O., Oz Levi, D., Hoffmann, C., Ruzzo, E.K., Ganelin-Cohen, E., Lancet, D., Pras, E., Rechavi, G., Nissenkorn, A., Anikster, Y., Goldstein, D.B., Ben Zeev, B.

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Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy von Pode‐Shakked, B., Barash, H., Ziv, L., Gripp, K.W., Flex, E., Barel, O., Carvalho, K.S., Scavina, M., Chillemi, G., Niceta, M., Eyal, E., Kol, N., Ben‐Zeev, B., Bar‐Yosef, O., Marek‐Yagel, D., Bertini, E., Duker, A.L., Anikster, Y., Tartaglia, M., Raas‐Rothschild, A.

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Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews von Weisz-Hubshman, M., Meirson, H., Michaelson-Cohen, R., Beeri, R., Tzur, S., Bormans, C., Modai, S., Shomron, N., Shilon, Y., Banne, E., Orenstein, N., Konen, O., Marek-Yagel, D., Veber, A., Shalva, N., Imagawa, E., Matsumoto, N., Lev, D., Lerman Sagie, T., Raas-Rothschild, A., Ben-Zeev, B., Basel-Salmon, L., Behar, D.M., Heimer, G.

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Updating the profile of C-terminal MECP2 deletions in Rett syndrome von Bebbington, A, Percy, A, Christodoulou, J, Ravine, D, Ho, G, Jacoby, P, Anderson, A, Pineda, M, Ben Zeev, B, Bahi-Buisson, N, Smeets, E, Leonard, H

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Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin von Cohen-Sadan, S., Kramer, U., Ben-Zeev, B., Lahat, E., Sahar, E., Nevo, Y., Eidlitz, T., Zeharia, A., Kivity, S., Goldberg-Stern, H.

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The Neuropsychological profile of patients with 3-Methylglutaconic aciduria type III, Costeff syndrome von Sofer, S., Schweiger, A., Blumkin, L., Yahalom, G., Anikster, Y., Lev, D., Ben-Zeev, B., Lerman-Sagie, T., Hassin-Baer, S.

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Glatiramer acetate (GA, Copolymer-1) an hypothetical treatment option for Rett syndrome von Ben-Zeev, B, Aharoni, R, Nissenkorn, A, Arnon, R

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Investigating genotype-phenotype relationships in Rett syndrome using an international data set von BEBBINGTON, A, ANDERSON, A, LEONARD, H, RAVINE, D, FYFE, S, PINEDA, M, DE KLERK, N, BEN-ZEEV, B, YATAWARA, N, PERCY, A, KAUFMANN, W. E

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Outcome of lamotrigine treatment in juvenile myoclonic epilepsy von Bodenstein-Sachar, H., Gandelman-Marton, R., Ben-Zeev, B., Chapman, J., Blatt, I.

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Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes von Russo, S., Marchi, M., Cogliati, F., Bonati, M. T., Pintaudi, M., Veneselli, E., Saletti, V., Balestrini, M., Ben-Zeev, B., Larizza, L.

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Creatine transporter deficiency: Novel mutations and functional studies von Ardon, O., Procter, M., Mao, R., Longo, N., Landau, Y.E., Shilon-Hadass, A., Gabis, L.V., Hoffmann, C., Tzadok, M., Heimer, G., Sada, S., Ben-Zeev, B., Anikster, Y.

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Investigating genotype-phenotype relationships in Rett syndrome using an international data set von Bebbington, A, Anderson, A, Ravine, D, Fyfe, S, Pineda, M, de Klerk, N, Ben-Zeev, B, Yatawara, N, Percy, A, Kaufmann, W E, Leonard, H

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Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin von Heimer, G., Eyal, E., Zhu, X., Ruzzo, E.K., Marek-Yagel, D., Sagiv, Doron, Anikster, Y., Reznik-Wolf, H., Pras, E., Oz Levi, D., Lancet, D., Ben-Zeev, B., Nissenkorn, A.

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Unilateral Rhythmic Hand Tapping in Rett Syndrome: Is This Stereotypy? von Nissenkorn, A., Ben-Zeev, B.

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Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin - CME questions von Cohen-Sadan, S., Kramer, U., Ben-Zeev, B., Lahat, E., Sahar, E., Nevo, Y., Eidlitz, T., Zeharia, A., Kivity, S., Goldberg-Stern, H.

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Cerebral venous thrombosis in the mediterranean area in children von Menascu, S, Lotan, A, Ben Zeev, B, Nowak-Gottl, U, Kenet, G

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Mutations in AIFM1 cause a potentially treatable X-linked childhood cerebellar ataxia von Nissenkorn, A, Eyal, E, Zhou, X, Ruzzo, E.K, Goldstein, D.B, Anikster, Y, Pras, E, Oz-Levi, D, Lancet, D, Ben-Zeev, B, Heimer, G

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PP05.11 – 3025: A new syndrome with postnatal microcephaly, mental retardation, spastic quadriplegia and pontocerebellar atrophy in Caucasus-Jewish families von Fattal-Valevski, A, Ben-Sira, L, Straussberg, R, Edvardson, S, Mimouni-Bloch, A, Kaufmann, R, Mandel, H, Konen, O, Fox, J, Elpeleg, O, Ben-Zeev, B

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P.6.9 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency von Nevo, Y, Ben-Zeev, B, Tabib, A, Straussberg, R, Anikster, Y, Shorer, Z, Fattal-Valevski, A, Ta-Shma, A, Aharoni, S, Rabie, M, Zenvrit, S, Goldshmidt, H, Felig, Y, Shaag, A, Mevorach, D, Elpeleg, O

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