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La ricerca find articoli where soggetti phrase all words 'INFANTILE CONVULSIONS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 28 riferimenti
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    1. Perniola, T; Margari, L; de Iaco, MG; Presicci, A; Ventura, P; Ferrannini, E; Illiceto, G
      Familial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance

      MOVEMENT DISORDERS
    2. Tammur, J; Prades, C; Arnould, I; Rzhetsky, A; Hutchinson, A; Adachi, M; Schuetz, JD; Swoboda, KJ; Ptacek, LJ; Rosier, M; Dean, M; Allikmets, R
      Two new genes from the human ATP-binding cassette transporter superfamily,ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12

      GENE
    3. Bhatia, KP
      Familial (idiopathic) paroxysmal dyskinesias: An update

      SEMINARS IN NEUROLOGY
    4. Guerrini, R
      Idiopathic epilepsy and paroxysmal dyskinesia

      EPILEPSIA
    5. Moulard, B; Buresi, C; Malafosse, A
      Study of the voltage-gated sodium channel beta 1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC)

      HUMAN MUTATION
    6. Scheffer, IE; Berkovic, SF
      Genetics of the epilepsies

      CURRENT OPINION IN PEDIATRICS
    7. Xia, JH; Zhang, HL; Tang, DS; Tang, XX; Dai, HP; Pan, Q; Long, ZG; Liao, XD
      Identification and characterization of human neuronal voltage-gated calcium channel gamma 3 subunit gene

      CHINESE SCIENCE BULLETIN
    8. Bhatia, KP; Griggs, RC; Ptacek, LJ
      Episodic movement disorders as channelopathies

      MOVEMENT DISORDERS
    9. Hattori, H; Fujii, T; Nigami, H; Higuchi, Y; Tsuji, M; Hamada, Y
      Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis

      BRAIN & DEVELOPMENT
    10. Hattori, H; Yorifuji, T
      Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism

      BRAIN & DEVELOPMENT
    11. Watanabe, K; Okumura, A
      Benign partial epilepsies in infancy

      BRAIN & DEVELOPMENT
    12. Moulard, B; Crespel, A; Malafosse, A; Baldy-Moulinier, M
      Recent insights about genetics of human idiopathic epilepsies and febrilesseizures

      REVUE NEUROLOGIQUE
    13. Berkovic, SF
      Familial epilepsies: Quality of life issues in genetic research

      NEUROLOGY
    14. Guerrini, R; Parmeggiani, L; Bonanni, P; Carrozzo, R; Casari, G
      Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

      NEUROLOGY
    15. Bennett, LB; Roach, ES; Bowcock, AM
      A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

      NEUROLOGY
    16. Munchau, A; Valente, EM; Shahidi, GA; Eunson, LH; Hanna, RG; Quinn, NP; Schapira, AHV; Wood, NW; Bhatia, KP
      A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    17. Hirsch, E; de Saint-Martin, A; Arzimanoglou, A
      New insights into the clinical management of partial epilepsies

      EPILEPSIA
    18. Valente, EM; Spacey, SD; Wali, GM; Bhatia, KP; Dixon, PH; Wood, NW; Davis, MB
      A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16

      BRAIN
    19. Zara, F; Gennaro, E; Stabile, M; Carbone, I; Malacarne, M; Majello, L; Santangelo, R; de Falco, FA; Bricarelli, FD
      Mapping of a locus for a familial autosomal recessive idiopathic myoclonicepilepsy of infancy to chromosome 16p13

      AMERICAN JOURNAL OF HUMAN GENETICS
    20. Singh, R; Macdonell, RAL; Scheffer, IE; Crossland, KM; Berkovic, SF
      Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms

      EPILEPTIC DISORDERS
    21. Peiffer, A; Thompson, J; Charlier, C; Otterud, B; Varvil, T; Pappas, C; Barnitz, C; Gruenthal, K; Kuhn, R; Leppert, M
      A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

      ANNALS OF NEUROLOGY
    22. Lerche, H; Biervert, C; Alekov, AK; Schleithoff, L; Lindner, M; Klingler, W; Bretschneider, F; Mitrovic, N; Jurkat-Rott, K; Bode, H; Lehmann-Horn, F; Steinlein, OK
      A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

      ANNALS OF NEUROLOGY
    23. Leppert, MF; Singh, N
      Susceptibility genes in human epilepsy

      SEMINARS IN NEUROLOGY
    24. Gennaro, E; Malacarne, M; Carbone, I; Riggio, MC; Bianchi, A; Bonanni, P; Boniver, C; Dalla Bernardina, B; De Marco, P; Giordano, L; Guerrini, R; Santorum, E; Sebastianelli, R; Vecchi, M; Veggiotti, P; Vigevano, F; Bricarelli, FD; Zara, F
      No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1

      EPILEPSIA
    25. Tomita, H; Nagamitsu, S; Wakui, K; Fukushima, Y; Yamada, K; Sadamatsu, M; Masui, A; Konishi, T; Matsuishi, T; Aihara, M; Shimizu, K; Hashimoto, K; Mineta, M; Matsushima, M; Tsujita, T; Saito, M; Tanaka, H; Tsuji, S; Takagi, T; Nakamura, Y; Nanko, S; Kato, N; Nakane, Y; Niikawa, N
      Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1

      AMERICAN JOURNAL OF HUMAN GENETICS
    26. PHILLIPS HA; SCHEFFER IE; CROSSLAND KM; BHATIA KP; FISH DR; MARSDEN CD; HOWELL SJL; STEPHENSON JBP; TOLMIE J; PLAZZI G; EEGOLOFSSON O; SINGH R; LOPESCENDES I; ANDERMANN E; ANDERMANN F; BERKOVIC SF; MULLEY JC
      AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY - GENETIC-HETEROGENEITY AND EVIDENCE FOR A 2ND LOCUS AT 15Q24

      American journal of human genetics
    27. HARVEY AS; BERKOVIC SF; WRENNALL JA; HOPKINS IJ
      TEMPORAL-LOBE EPILEPSY IN CHILDHOOD - CLINICAL, EEG, AND NEUROIMAGINGFINDINGS AND SYNDROME CLASSIFICATION IN A COHORT WITH NEW-ONSET SEIZURES

      Neurology
    28. TERWINDT GM; OPHOFF RA; LINDHOUT D; HAAN J; HALLEY DJJ; SANDKUIJL LA; BROUWER OF; FRANTS RR; FERRARI MD
      PARTIAL COSEGREGATION OF FAMILIAL HEMIPLEGIC MIGRAINE AND A BENIGN FAMILIAL INFANTILE EPILEPTIC SYNDROME

      Epilepsia


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/05/20 alle ore 07:15:20