Epilepsy syndromes-infancy

Question 1

Benign myoclonic epilepsy in infancy AKA myoclonic epilepsy in infancy

Answer 1

• 4 months are 3 years
• triggered by sensory stimuli
• brief head nods and eye rolling
• family history of generalized epilepsy or febrile seizures
• EEG: 3-4Hz spike and wave, photoparoxysmal response, normal ictal EEG
• GTC later in life can happen

Question 2

Benign Epilepsy of Infancy/Benign Familial Infantile Epilepsy

Answer 2

-3 months to 2 years
-Seizures: staring, unresponsiveness, cessation of activity, eye deviation, apnea, cyanosis, automatisms, multifocal seizures
-MOVEMENT disorders later in life: paroxysmal
kinesigenic dyskinesia, familial hemiplegic migraine, episodic ataxia
-AUTOSOMAL DOMINANT (PRRT2)

Question 3

Epilepsy of Infancy With Migrating Focal Seizures

Answer 3

• birth to 6 months
• migrating focal seizures
• –>focal motor and autonomic symptoms
• –>lateral head and/or eye deviation,
• –> unilateral eyelide/eye jerking
• –> unilateral tonic or clonic seizures
• recurrent status epilepticus

Question 4

Hemiconvulsion-Hemiplegia-Epilepsy syndrome

Answer 4

• prolonged unilateral clonic seizures
• cerebral hemiatrophy; unilateral cerebral edema
• flaccid hemiparesis
• Etiology: typically mild febrile illness superimposed on ie structural abnormality

Question 5

Dravet syndrome

Answer 5

SCN1A gene - autosomal dominant

-Prolonged febrile seizures, provoked by hyperthermia (SENSITIVE TO TEMPERATURE)
-GTC, hemiconvulsive seizures, myoclonic seizures (90%!!), atypical absence seizures
< 1yr onset
-Cognitive dysfunction, ataxia, psychomotor regression, ADHD, low muscle tone, crouch gait

Treatment: VPA, clobazam, CBD, Keppra, Topiramate, ketogenic diet, VNS

AVOID CARBAMANZEPINE, PHENYTOIN, LAMOTRIGINE, LACOSOMIDE, RUFINAMIDE, VIGABUTRIN

EEG: multifocal, generalized; activated by drowsiness and photic stimulation