seizure disorders

Question 1

Repetitive clonic sz,
onset day 2‐3,
usually resolve within weeks,
may recur in 10%
No impact on development

Answer 1

Benign Familial Neonatal
Convulsions

***KCNQ2 (#20q) > KCNQ3 (#8q)
***Rare severe outcome, KCNQ2 epileptic encephalopathy

Question 2

Peak onset 4‐7 mth, 90% <1yr
Clusters of brief symmetrical contractions, common on wakening

Triad: infantile spasms, hypsarrhythmia, arrest of psychomotor development

Answer 2

West Syndrome

*** Assoc mutations include ARX, CDKL5, SPTAN1, STXBP1

Question 3

Childhood onset, typically 2‐8 yrs

Multiple seizure types including atypical absence, tonic, atonic & myoclonic, long periods of nonconvulsive status

Frequent drop attacks sig problem for care

EEG slow spike & wave, <2.5Hz
Usually assoc with profound intellectual disability

Answer 3

Lennox‐Gastaut syndrome

Question 4

First line management of Infantile spasms

Answer 4

Steroids

VGB for Tuberous Sclerosis

Question 5

Treatments for Lennox‐Gastaut syndrome

Answer 5

Mgt difficult: mainstay is sodium valproate and benzodiazepine

Newer AEDs (lamotrigine and topiramate),

ketogenic diet, rufinamide

Drops: Corpus callosotomy, vagal n. stim

Question 6

Epilepsy disorder associated with SCN1A mutation

Answer 6

Genetic Epilepsy with Febrile Seizures+

spectrum includes Dravet syndrome

Question 7

1st year life‐prolonged febrile seizures,

GTC but often unilateral (hemiclonic)

1‐4yr: myoclonic, absence, clusters GTC

Developmental arrest → intellectual diseability

EEG slows, generalised polyspike

Answer 7

Dravet syndrome ‐ Severe Myoclonic Epilepsy of Infancy (SMEI)

Question 8

10‐15% childhood epilepsy, onset 4‐10yrs

Focal sensori‐motor sz from sleep involve face & tongue, +/‐ GTC

Answer 8

Childhood Epilepsy with Centro‐Temporal Spikes/ Benign Rolandic Epilepsy

Question 9

Abrupt cessation of activity, motionless with blank stare, eyes may roll up, ends abruptly, not aware of event

Typical 3Hz generalised spike ‐wave EEG\

provoked by hyperventilation

2‐10% epilepsy, onset peak 4‐8 yr

Answer 9

Childhood Absence Epilepsy

*** ethosuximide

Question 10

Absence epilepsy

onset 10-17 yr old

Answer 10

Juvenile Absence Epilepsy

*** likelihood of remission is lower cf Childhood Absence Epilepsy

Question 11

peak onset 12‐16 years

Early morning myoclonus, often unrecognised until GTC develop

EEG 4‐6Hz polyspike‐wave bursts evoked by photic stimulation

Answer 11

Juvenile Myoclonic Epilepsy (JME)

*** Lifelong sz, respond to VPA 85‐ 90%

Question 12

Focal with or without change in awareness

automatisms mouth and hand

post ictal confusion

onset 10yo - adult

PHx febrile seizures common, other risk factors CNS infection, trauma, perinatal injury

Answer 12

Temporal lobe seizures

*** Neuroimaging: hippocampal atrophy, neoplasms, vascular, normal

Question 13

Clusters of motor seizures, often nocturnal Brief (<30sec), sudden onset

Prominent vocalisation common

Clue: stereo-typed for each patient

Answer 13

Frontal lobe epilepsy

*** ADNFLE: nicotinic subunit mut’n of Ach receptor (#20q13, CHRNA4)

Question 14

Acquired epileptic aphasia

Regression in language, assoc seizures

Present 2‐8yo, timing of seizures varies Behavioural disturbances marked

EEG: continuous status epilepticus of sleep

Answer 14

Landau‐Kleffner syndrome

***Difficult to treat – steroids, VPA, BZ, surgery ◦ sz controlled but aphasia often unaffected

Question 15

Give examples of paroxysmal non‐epileptiform disorders

Answer 15

Cardiovascular ◦ breath‐holding, syncope, prolonged QT

Sleep ◦ Benign myoclonus, parasomnias eg. Night terrors

Movement disorders ◦ Tics, paroxysmal dyskinesias

Gastrointestinal ◦ Sandifer syndrome in GER

Psychological ◦ Non‐epileptic seizures, panic attacks

Question 16

Management of Tics

Answer 16

Reassurance of parents & child firstline mgt Consider clonidine if QOL sig affected

peak severity 10‐13y

>50% tic free by 18yo, most diminish