Pharma
This antiepileptic drug binds SV2A and has minimal CYP450 interactions.
What is levetiracetam?
Failure of closure of the caudal neuropore results in this neural tube defect affecting the spinal cord.
What is spina bifida?
The embryonic layer that forms the epidermis, hair, nails, and sensory epithelium is this.
What is surface ectoderm?
A seizure is defined as abnormal, excessive, synchronous neuronal activity, while this diagnosis requires recurrent unprovoked seizures.
What is epilepsy?
Prader-Willi syndrome results from loss of expression of paternal genes on chromosome 15. The most common mechanism is this.
What is paternal deletion?
A patient presents with excessive sedation after benzodiazepine administration. This antidote may be used to reverse the drug’s effects.
What is flumazenil?
Maternal supplementation with this supplement reduces neural tube defects by supporting DNA synthesis and methylation pathways.
What is folate?
During neurulation, this embryonic structure induces the overlying ectoderm to thicken and form the neural plate.
What is the notochord?
These seizures involve abnormal electrical activity from both cerebral hemispheres at onset and often cause loss of consciousness.
What are generalized seizures?
Mutation or disruption of this signaling molecule produced by the notochord and floor plate can impair neural tube patterning and cause holoprosencephaly.
What is Sonic hedgehog (SHH)?
Respiratory depression is the most serious adverse effect of this medication used for acute seizure termination.
What is midazolam?
A fetus has a lumbar myelomeningocele. Which associated hindbrain abnormality occurs due to downward displacement of the cerebellar tonsils through the foramen magnum?
What is Chiari II malformation?
The fourth pharyngeal pouch gives rise to these endocrine glands that regulate calcium levels.
What are the superior parathyroid glands?
A patient has continuous seizure activity lasting >5 minutes or repeated seizures without return to baseline. This neurologic emergency is called this.
What is status epilepticus?
Stranger anxiety and separation anxiety typically emerge during this developmental period.
What is 9 months old?
Benzodiazepines enhance GABA-A receptor activity by increasing this aspect of chloride channel opening, while barbiturates increase the other.
What are frequency (benzodiazepines) and duration (barbiturates)?
This defect involves herniation of meninges and fat through a vertebral defect but remains covered by skin.
What is lipomyelomeningocele?
The second pharyngeal pouch gives rise to this lymphoid organ.
What are the palatine tonsils?
A patient has a focal seizure arising from the temporal lobe with impaired awareness, followed by confusion and repetitive lip-smacking movements during the event. The seizure type is classified as this.
What is a focal impaired awareness seizure?
A newborn has features concerning for Prader-Willi or Angelman syndrome. You suspect abnormal parental imprinting but do not know the exact genetic change. Which test should be ordered?
What is methylation analysis?
This anti-epileptic is associated with neural tube defects and inhibits voltage-gated sodium channels, increases GABA, and blocks T-type calcium channels.
What is valproic acid?
This rare cranial dysraphism results from abnormal occipital bone and cervical vertebral development, causing extreme backward bending of the head (retroflexion).
What is iniencephaly?
A newborn has hypocalcemia, recurrent infections, and cardiac abnormalities due to abnormal development of the third and fourth pharyngeal pouches.
What is DiGeorge syndrome (22q11 deletion)?
A newborn has rhythmic jerking and apnea after delivery complicated by maternal hypertension and emergency C-section. This seizure presentation raises concern for this neonatal brain injury.
What is hypoxic-ischemic encephalopathy (HIE)?
A patient has a strong suspicion for cystic fibrosis and you want to look specifically for a mutation in the CFTR gene. Which test should you order?
What is single gene sequencing?