Variant of rett syndrome and CDKL5 gene: Clinical and autonomic description of 10 cases

Neuropediatrics

Volumn 43, Issue 1, 2012, Pages 37-43

  Pini, Giorgio ^a   Bigoni, Stefania ^a,c   Engerström, Ingegerdwitt ^d   Calabrese, Olga ^e   Felloni, Beatrice ^a   Scusa, Mariaflora ^a   Di Marco, Pietro ^a   Borelli, Paolo ^b   Bonuccelli, Ubaldo ^b   Julu, Petero O ^f   Nielsen, Jyttebieber ^g   Morin, Bodil ^h   Hansen, Stig ⁱ   Gobbi, Giuseppe ^j   Visconti, Paola ^j   Pintaudi, Maria ^k   Edvige, Veneselli ^k   Romanelli, Anna ^l   Bianchi, Fabrizio ^l   Casarano, Manuela ^m   Battini, Roberta ^m   Cioni, Giovanni ^m   Ariani, Francesca ⁿ   Renieri, Alessandra ⁿ   Benincasa, Alberto ^o   Delamont, Roberts ^p   Zappella, Michele ^a   more..

^a Tuscany Rett Centre Versilia Hospital   (Italy)

^b Versilia Hospital   (Italy)

^c UNIVERSITY HOSPITAL OF FERRARA   (Italy)

^d Swedish Rett Center   (Sweden)

^e ASL Imola   (Italy)

^f Breakspear Medical Group   (United Kingdom)

^g JOHN F KENNEDY INSTITUTE   (Denmark)

^h SUNDSVALL HOSPITAL   (Sweden)

ⁱ QUEEN ELIZABETH UNIVERSITY HOSPITAL   (United Kingdom)

^j MAGGIORE HOSPITAL   (Italy)

^k G GASLINI INSTITUTE   (Italy)

^l CNR   (Italy)

^m DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

ⁿ UNIVERSITY HOSPITAL OF SIENA   (Italy)

^o Ospedale Versilia   (Italy)

^p KING'S COLLEGE LONDON   (United Kingdom)

more..

Author keywords

autonomic nervous system; CDKL5 gene; epilepsy; Rett syndrome

Indexed keywords

ADOLESCENT; APNEA; ARTICLE; AUTONOMIC NERVOUS SYSTEM; BREATH HOLDING; CDKL5 GENE; CHILD; CLINICAL ARTICLE; DELETION MUTANT; ELECTROENCEPHALOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GAZE; GENE; GENETIC VARIABILITY; HANEFELD VARIANT; HEAD MOVEMENT; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; STEREOTYPY;

ADOLESCENT; AUTONOMIC NERVOUS SYSTEM DISEASES; BRAIN; CHILD; CHILD, PRESCHOOL; DISABILITY EVALUATION; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; METHYL-CPG-BINDING PROTEIN 2; MUTATION; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; SEVERITY OF ILLNESS INDEX;

EID: 84858320510     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0032-1308856     Document Type: Article

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