Neonatal/Infantile
First line treatment in patients with infantile spasms
ACTH
Epilepsy syndrome typically seen in a child 2-8 years with vomiting, migraine features, autonomic symptoms, and acute loss of tone (ictal syncope) due to focal occipital lobe seizures
Panayiotopoulos/Childhood epilepsy with occipital paroxysms
Epilepsy associated with 4-6Hz polyspike/spike and wave discharges
The most common "progressive myoclonus epilepsy" associated with cystatin B (CSTB) gene mutations
-Ages 6-16 years (Estonia, Latvia and Lithuania)
Pattern of inheritance and mutation?
Unverricht-Lundborg syndrome
AR EPM1
Mechanism of action of Vigabatrin
inhibition of GABA transaminase, resulting in increase concentration of GABA at synaptic cleft
Condition associated with brief bursts of 2-5Hz spike and wave discharges in EEG and astatic/atonic seizures
Myoclonic-atonic epilepsy (Doose Syndrome)
Epilepsy syndrome that presents between 7-13 years with hemifacial twitching, excessive salivation, and inability to speak
Self-limited epilepsy with centrotemporal spikes (SeLECTS)
-Adolescence 6-19 years of age in the middle east and considered a neurodegenerative disease with progression to dementia
-GTC's that respond to treatment while myoclonic not
What is the name of this glycogen storage disease and its common mutations?
Lafora Body disease
EPM2A, EPM2B
Condition with the classic findings of hypsarrhythmia on EEG, infantile spasms, and intellectual disability
West Syndrome
Condition that on EEG shows generally slow (1.5-2.5Hz) spike and waves and generalized paroxysmal fast activity (GFPA)
Lennox-Gastaut
Epilepsy syndrome associated with glutamate receptor genes GluRE2 (anti-NR2A) and GluR3 (AMPA receptor)
Rasmussen encephalitis (chronic focal epilepsy)
-Lysosomal disease in Ashkenazi Jews
-typically with marked developmentla delay, seizures, child becomes blind (Cherry red spot), deaf, spastic, and paralytic
What is the name of disease and mutation?
Tay-Sachs, Sandhoff Ab variant
mutation of Hexosaminidase
Epilepsy condition that presents in a normal healthy neonate 4-6 days of life and self resolves in a few days
Benign Neonatal Seizures (Non-familial) "fifth day fits" (Benign Idiopathic neonatal convulsions)
Epilepsy syndrome with language regression, auditory agnosia, and continuous spike and waves during slow sleep (CSWS) on EEG
Landau-Kleffner (Acquired epileptic aphasia)
can begin in childhood but seen in adolescents, presents with nocturnal focal aware seizures, thrashing/screaming/fear, confused with night terrors
Familial (autosomal dominant) nocturnal frontal lobe epilepsy (ADNFLE)
Progressive vision loss, ataxia, myoclonus, and seizures, retinal cherry red spots
What is the disease and enzyme deficiency?
Sialidosis type 1 and alpha-neuraminidase
Epilepsy syndrome that presents with tonic spasms and burst suppression seen on EEG in children < 3 months of age
Otahara Syndrome (Early infantile epileptic encephalopathy)
Valproic acid is absolutely contraindicated in this type of epilepsy due to its effects on mitochondrial metabolism.
POLG(polymerase gamma)-related epilepsy
Which medications worsen Juvenile myoclonic epilepsy?
carbamazepine, phenytoin, gabapentin, pregabalin, tiagabine, and vigabatrin
Patients present with macular degeneration, dementia, and dystonia
Curvilinear bodies on muscle biopsy
Neuronal ceroid lipofuscinosis (infant form)