Episodic syndromes

Question 1

Miller-fisher antibodies

Answer 1

GQ1B

Question 2

Stiff person syndrome antibodies

Answer 2

anti-GAD

Question 3

Benign familial infantile sz gene

Answer 3

SCN2A

Question 4

Dravet syndrome gene

Answer 4

SCN1A

Question 5

Alternating hemiplegia of childhood gene, target

Answer 5

ATP1A2, Na/K ATP pump

Question 6

Episodic ataxia 1 gene, sx

Answer 6

KCNA1

Ataxia +/- myokymia

Question 7

Episodic ataxia 2 gene, tx, sx

Answer 7

CACNA1A
Acetazolamide responsive
+/- migraine

Question 8

Familial Hemiplegic Migraine 1 gene, add’l sx, associated diseases

Answer 8

CACNA1A
Cbl sx, hemiplegia/coma attacks with full recovery
Episodic ataxia 2, SCA 6

Question 9

Familial Hemiplegic Migraine 2 gene, add’l sx, assoc diseases

Answer 9

ATP1A2
Sz w/ mental retardation, recurrent comas, frequent/long hemiplegias
Alternating hemiplegia of childhood

Question 10

Cause of TAC autonomic symptoms

Answer 10

parasympathetic outflow from superior salivatory nucleus (CN 7)

Question 11

Hypnic HA tx

Answer 11

Lithium!

+ melatonin, caffeine, indomethacin

Question 12

Cluster HA preventative treatment

Answer 12

Verapamil!

Question 13

Idiopathic cranial pachymeningitis sx, imaging

Answer 13

HA + neuro sx (hemiparesis, ataxia, aphasia, confusion)
Prominent leptomeningeal enhancement
Diagnosis of exclusion(ish)

Question 14

Kleine-Levin syndrome sx

Answer 14

episodes of:
hypersomnia, hyperphagia, uninhibited sex drive
childish, irritable hallucinations