Glutamatergic neurotransmission governs excitatory signaling in the mammalian brain, and abnormalities of glutamate signaling have been shown to contribute to both epilepsy and hyperkinetic movement disorders. The etiology of many severe childhood movement disorders and epilepsies remains uncharacterized. We describe a neurological disorder with epilepsy and prominent choreoathetosis caused by biallelic pathogenic variants in FRRS1L, which encodes an AMPA receptor outer-core protein. Loss of FRRS1L function attenuates AMPA-mediated currents, implicating chronic abnormalities of glutamatergic neurotransmission in this monogenic neurological disease of childhood.
A BMI 60 or greater at the time of delivery is significantly associated with increased neonatal morbidity and increased maternal complication rates. In addition, neonatal morbidity and maternal complication rates with BMI 60 or greater were significantly higher when compared with women in any lesser obese BMI cohort between 30 and 59.
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