Fahr's Syndrome: Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11150%2F22%3A10456117" target="_blank" >RIV/00216208:11150/22:10456117 - isvavai.cz</a>
Alternative codes found
RIV/00179906:_____/22:10456117
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=LL7z0kDi7J" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=LL7z0kDi7J</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Fahr's Syndrome: Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures
Original language description
Hypocalcaemia of various origin can be manifested by paresthesia, muscle cramps, muscle weakness, syncope, convulsions and even severe psychomotor retardation. Such symptoms can be initially considered as sings of epilepsy. We present a 12-year old boy with partial seizures and basal ganglia calcifications, initially diagnosed as having Fahr's disease and epilepsy, where severe hypocalcemia, due to genetically confirmed pseudohypoparathyroidism type Ib was the underlying cause.
Czech name
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Czech description
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Type
J<sub>SC</sub> - Article in a specialist periodical, which is included in the SCOPUS database
CEP classification
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OECD FORD branch
30202 - Endocrinology and metabolism (including diabetes, hormones)

Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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