A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms
Sign Up to like & getrecommendations! Published in 2018 at "Brain"
DOI: 10.1093/brain/awy283
Abstract: Sampedro Castaneda et al. describe a boy with hypokalaemic periodic paralysis (hypoPP) and epilepsy without mutations in known risk genes. They show that a de novo mutation in ATP1A2, encoding a Na+/K+-ATPase subunit, gives rise… read more here.
Keywords: atp1a2 mutation; periodic paralysis; novel atp1a2; hypokalaemic periodic ... See more keywords
Hypokalaemic periodic paralysis secondary to subclinical hyperthyroidism: an uncommon cause of acute muscle paralysis
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DOI: 10.1136/bcr-2020-240666
Abstract: Hypokalaemic periodic paralysis secondary to subclinical hyperthyroidism is an uncommon clinical phenomenon characterised by lower limb paralysis secondary to hypokalaemia in the background of subclinical hyperthyroidism. In this article, we report a patient who presented… read more here.
Keywords: paralysis secondary; hypokalaemic periodic; subclinical hyperthyroidism; secondary subclinical ... See more keywords
Novel CACNA1S mutation in hypokalaemic periodic paralysis
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DOI: 10.1136/bcr-2021-245952
Abstract: A 15-year-old girl was admitted to emergency department with an acute flaccid tetraparesis with no other symptoms. A history of recurrent similar episodes with spontaneous recovery was reported and no family history was known. Laboratory… read more here.
Keywords: novel cacna1s; cacna1s mutation; hypokalaemic periodic; paralysis ... See more keywords
Refractory familial hypokalaemic periodic paralysis leading to cardiovascular compromise
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DOI: 10.1136/bcr-2021-246674
Abstract: Familial hypokalaemic periodic paralysis (FHPP) is a rare neuromuscular disorder that is classified under periodic paralysis (PP), which is characterised by episodes of muscle weakness. Common triggers include intense exercise, fasting or consumption of carbohydrate-rich… read more here.
Keywords: refractory familial; hypokalaemic periodic; paralysis; familial hypokalaemic ... See more keywords
Diverse phenotype of hypokalaemic periodic paralysis within a family
Sign Up to like & getrecommendations! Published in 2017 at "Practical Neurology"
DOI: 10.1136/practneurol-2017-001677
Abstract: Hypokalaemic periodic paralysis typically presents with intermittent mild-to-moderate weakness lasting hours to days. We report a case with an uncommon phenotype of late-onset myopathy without episodic paralytic attacks. Initial work-up including muscle biopsy was inconclusive.… read more here.
Keywords: periodic paralysis; hypokalaemic periodic; family; paralysis ... See more keywords