TY  - JOUR
AU  - Gur-Hartman, Tamar
AU  - Berkowitz, Oren
AU  - Yosovich, Keren
AU  - Roubertie, Agathe
AU  - Zanni, Ginevra
AU  - Macaya, Alfons
AU  - Heimer, Gali
AU  - Dueñas, Belén Pérez
AU  - Sival, Deborah A
AU  - Pode-Shakked, Ben
AU  - López-Laso, Eduardo
AU  - Humbertclaude, Véronique
AU  - Riant, Florence
AU  - Bosco, Luca
AU  - Cayron, Lital Bachar
AU  - Nissenkorn, Andreea
AU  - Nicita, Francesco
AU  - Bertini, Enrico
AU  - Hassin, Sharon
AU  - Ben Zeev, Bruria
AU  - Zerem, Ayelet
AU  - Libzon, Stephanie
AU  - Lev, Dorit
AU  - Linder, Ilan
AU  - Lerman-Sagie, Tally
AU  - Blumkin, Lubov
PY  - 2020
DO  - 10.1016/j.ejpn.2020.10.004
UR  - https://hdl.handle.net/10668/25500
T2  - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
AB  - CACNA1A-related disorders present with persistent progressive and non-progressive cerebellar ataxia and paroxysmal events: epileptic seizures and non-epileptic attacks. These phenotypes overlap and co-exist in the majority of patients. To describe...
LA  - en
KW  - Cognitive difficulties
KW  - Congenital cerebellar ataxia
KW  - Epilepsy
KW  - Episodic ataxia
KW  - Paroxysmal disorders
KW  - Paroxysmal tonic upward gaze
KW  - Calcium Channels
KW  - Cerebellar Ataxia
KW  - Child
KW  - Cognition Disorders
KW  - Dystonia
KW  - Epilepsy
KW  - Female
KW  - Humans
KW  - Infant
KW  - Male
KW  - Phenotype
KW  - Retrospective Studies
TI  - Clinical phenotypes of infantile onset CACNA1A-related disorder.
TY  - research article
VL  - 30
ER  -