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Updated: Apr 6, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

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Gene sleuthing in pyridoxine-dependent epilepsy

Sarah Weckhuysen1, Phillip L Pearl2

  • 1From Inserm U 1127 (S.W.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, AP-HP, Hôpital de la Pitié Salpêtrière, Service de Neurologie, Paris, France; Neurogenetics Group (S.W.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W.), Institute Born-Bunge, University of Antwerp, Belgium; Division of Epilepsy and Clinical Neurophysiology (P.L.P.), Boston Children's Hospital; and the Department of Neurology (P.L.P.), Harvard Medical School, Boston, MA. sarah.weckhuysen@molgen.vib-ua.be.

Neurology
|July 31, 2015
PubMed
Summary

No abstract available in PubMed .

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