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Martin Häusler

Researcher at RWTH Aachen University

Publications -  137
Citations -  4879

Martin Häusler is an academic researcher from RWTH Aachen University. The author has contributed to research in topics: Epilepsy & Virus. The author has an hindex of 33, co-authored 131 publications receiving 4173 citations. Previous affiliations of Martin Häusler include University of Zurich & University of Graz.

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Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

TL;DR: It is proposed that KCNJ10 is required in the kidney for normal salt reabsorption in the distal convoluted tubule because of the need for K+ recycling across the basolateral membrane to enable normal activity of the Na+-K+-ATPase; loss of this function accounts for the observed electrolyte defects.
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Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood.

TL;DR: The lack of evidence for encephalitis suggests another infection‐related pathogenesis of this disastrous epileptic encephalopathy, and the term “febrile infection–related epilepsy syndrome” (FIRES) is proposed.