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...

Celý popis

Uloženo v:

Podrobná bibliografie
Vydáno v:	Journal of neurology Ročník 271; číslo 10; s. 6618 - 6627
Hlavní autoři:	Indelicato, Elisabetta, Nachbauer, Wolfgang, Amprosi, Matthias S., Maier, Sarah, Unterberger, Iris, Delazer, Margarete, Kaltseis, Katharina, Kiechl, Stefan, Broessner, Gregor, Baumann, Matthias, Boesch, Sylvia
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Berlin/Heidelberg Springer Berlin Heidelberg 01.10.2024 Springer Nature B.V
Témata:	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
On-line přístup:	Získat plný text
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Buďte první, kdo okomentuje tento záznam!