Natural history of non-polyglutamine CACNA1A disease in Austria

Background and objectives Non-polyglutamine CACNA1A variants underlie an extremely variable phenotypic spectrum encompassing developmental delay, hemiplegic migraine, epilepsy, psychiatric symptoms, episodic and chronic cerebellar signs. We provide our experience with the long-term follow-up of CACN...

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Veröffentlicht in:	Journal of neurology Jg. 271; H. 10; S. 6618 - 6627
Hauptverfasser:	Indelicato, Elisabetta, Nachbauer, Wolfgang, Amprosi, Matthias S., Maier, Sarah, Unterberger, Iris, Delazer, Margarete, Kaltseis, Katharina, Kiechl, Stefan, Broessner, Gregor, Baumann, Matthias, Boesch, Sylvia
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	Berlin/Heidelberg Springer Berlin Heidelberg 01.10.2024 Springer Nature B.V
Schlagworte:	Acetazolamide Adolescent Adult Aged Austria - epidemiology Calcitonin gene-related peptide Calcium Channels - genetics Cerebellum Child Child development Child, Preschool Children Developmental Disabilities - drug therapy Disease prevention Epilepsy Female Follow-Up Studies Headache Humans Male Medical treatment Medicine Medicine & Public Health Middle Aged Migraine Monoclonal antibodies Movement disorders Neurological diseases Neurology Neuroradiology Neurosciences Original Communication Paralysis Patients Polyglutamine diseases Prophylaxis Seizures Topiramate Trinucleotide repeat diseases Young Adult Austria Episodic ataxia Anti-CGRP antibody Outcome measurements Hemiplegic migraine Natural history CACNA1A
ISSN:	0340-5354, 1432-1459, 1432-1459
Online-Zugang:	Volltext
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