Severe neonatal epilepsy linked to a novel homozygous SLC12A5 Arg508Cys variant with impaired chloride transport.

Exp NeurolJun 17, 2026 (epub)
Case ReportMedical GeneticsNeurology

Safoura Ghalamkari, Viivi Jӓrvelӓ, Anna-Maria Hartmann et al.

✦ AI-curated · Sources linked

Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

The potassium-chloride cotransporter 2 (KCC2) is a neuron-specific transporter essential for maintaining low intracellular chloride levels. By extruding chloride ions, KCC2 ensures that activation of GABA A receptors produces hyperpolarizing inhibitory responses rather than depolarizing responses.

Source

PubMed · PMID 42309338

Published in Exp Neurol. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

ShareTelegramLinkedIn

AI-generated summaries may contain errors or omissions. Verify clinically important information with the original publication.

More in Medical Genetics

Clinical ResearchHematology

Ponatinib-Blinatumomab or Imatinib-Chemotherapy for Adult Ph-Positive ALL.

This multicenter, phase 3 randomized trial compared frontline ponatinib plus blinatumomab with imatinib plus chemotherapy in adults with Philadelphia-positive acute lymphoblastic leukemia.

N Engl J MedOct 15, 2026Read summary
Clinical ResearchHematology

Efficacy and safety of mitapivat in patients with sickle cell disease (RISE UP): a phase 3, double-blind, global, randomised, placebo-controlled trial.

RISE UP was a phase 3, double-blind, global, randomised, placebo-controlled trial conducted at 69 sites in 15 countries. It evaluated twice-daily mitapivat in patients older than 16 years with sickle cell disease…

LancetOct 24, 2026Read summary
Clinical ResearchRheumatology

Ianalumab for the Treatment of Patients with Sjögren's Disease.

Two 52-week, double-blind, randomized, placebo-controlled phase III trials evaluated monthly or less frequent ianalumab in patients with active Sjögren's disease.

N Engl J MedOct 22, 2026Read summary

Want this personalized?

Stop searching the literature. Choose what you follow and xxcode will build your personalized medical digest.

  • Your specialties
  • Your filters and thresholds
  • Clinical Research + Case Reports, tuned separately
  • Automatic weekly delivery
  • Audio and text
Create my personalized digestSee plans

Prefer listening? Personalized audio digests are available with Pro.

Stay updated for free

Get the 3 most interesting publications in one specialty each week.

Weekly email. Unsubscribe anytime.