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Home , Absence seizure, Postictal state

Ahmed Koriesh NeurologyResidents.Net

Syndrome Classification Clinical picture (AE) EEG Treatment Prognosis Neonatal/Infantile period Benign familial Partial/ Onset: First week after birth. focal or multifocal No treatment Usually stop by 6 wks. neonatal Generalized CP: Clonic or myoclonic seizures needed 16% risk of developing

(BFNS) fifth day fits (AD inheritance - KCNQ2 and KCNQ3 mutation) .

Benign familial Partial Focal clonic , Eye deviation, cyanosis Occipital-parietal No treatment Excellent, usually infantile seizures Seizures often cluster spikes needed resolves in 1-2 years (BFIS) Benign Myoclonic Generalized Onset: 6m:3y Generalized spike/wave & Remission in most cases Epilepsy of Infancy Brief generalized myoclonic activity lasting 2-3 seconds

Early Myoclonic Generalized Onset: first month of life Burst-suppression that AED - Poor, 50% die in few wks encephalopathy Starts with erratic myoclonic jerks then simple focal sz then evolve to Intractable (EME) infantile spasms. . Multiple metabolic causes identified.

Early infantile Generalized Tonic spasms - Often hundreds daily Burst-suppression Surgical eval. Poor - Can evolve into Epileptic 75% have lesions in MRI West syndrome or encephalopathy (EIEE) (Often arising from cortical dysplasia Lennox-Gastaut or associated with STXBP1 “Syntaxin binding protein” gene syndrome mutation) Infantile spasms & Generalized Onset: Infancy Hypsarrhythmia (high- Corticotrophin Poor West Syndrome Infantile spasms: sudden jackknife-like movement, with amplitude, chaotic slow and . flexion of the neck, trunk, limbs, and waist, occur in clusters waves with multifocal West syndrome: Infantile spasms + developmental delay + spikes). Electrodecrement hypsarrhythmia (May be associated with cortical Dysplasia) during spasms Aicardi syndrome: infantile spasms + agenesis of the corpus callosum + retinal lacunae

Severe myoclonic Focal or Onset: first year, peak 2-8 months Slow background, Valproate, Poor epilepsy in infancy Generalized Focal or GTC seizures. Starts initially in setting of fever or Multifocal or generalized , vaccination; later, myoclonic and absence seizures spike-and-wave ketogenic diet Developmental arrest with onset of seizures (SCN1A “Sodium channel 1A” mutation)

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Childhood period: Benign epilepsy with Partial Onset: School age, 15:25% of Centro-temporal spikes No treatment Resolves by puberty. centrotemporal spikes CP: Nocturnal SPS with clonic contractions of upper face and with normal background. needed. CBZ if 2/3 infrequent seizures UL, excessive salivation, gurgling or choking sounds. frequent Sz

Childhood epilepsy Partial Onset: 1-14 average 5 years Interictal occipital spikes No treatment 20% develop ictal with occipital CP: Nocturnal autonomic seizures of prolonged duration. Child Increase in non-REM needed w/wo paroxysms is conscious but complains about feeling sick, vomits, turns sleep Panayiotopoulos pale, dilated pupils ±visual seizures, thermoregulatory alterations. Later they develop partial or GTCs

Idiopathic childhood Onset: 3-14 average 8 Interictal high-amplitude CBZ 50% with positive FH of of CP: episodic blindness or colored luminous discs, visual spike-and-wave epilepsy Gastaut . lasting seconds or minutes; postictal complexes occurring with in one-third the eyes closed. Acquired Epileptic Partial Onset: 3-8 years old Bilateral centrotemporal Valproate, Variable – many involving face or arm, usually diagnosed initially Spikes, increased during Lamotrigine & children become Landau-Kleffner as BECTS then child develop acquired motor & sensory sleep steroids. Avoid permanently aphasic Syndrome aphasia CBZ & PHT

Continuous Spike- - Onset: around 5 years ESES appears 2-3 years Valproate, Wave Activity during Starts with partial or generalized seizures then develop after onset. Lamotrigine & Sleep (CSWS) epileptic encephalopathy. steroids Lennox-Gastaut Generalized Multiple (Tonic, atonic, absence) + Mental Interictal: slow spike-and- Valproate for Poor syndrome retardation + slow spike-wave (1.5 – 2.5 Hz) wave patterns, ≤2.5 Hz all seizure types. Lamotrigine & felbamate for drop attacks Myoclonic-astatic Generalized Onset: around 3 years Slow background, Valproate, Variable Epilepsy Myoclonic, atonic, tonic, and absence seizures generalized spike-and- Lamotrigine, 50% will attain seizure Doose Syndrome Sz may start in the setting of infection/fever wave pattern Levetiracetam, freedom and normal IQ Ketogenic diet Childhood absence Generalized Brief (few seconds) staring 3-Hz spike-and-wave , Excellent epilepsy Episodes - Behavioral arrest pattern valproate, and Often remits by teenage May include automatisms Lamotrigine. yrs No - Provoked by hypoglycemia and Dc’d if seizure Should be distinguished Ahmed Koriesh NeurologyResidents.Net

free for 1-2 ys from juvenile absence, atypical absence Generalized Febrile seizures; myoclonic, astatic, tonic-clonic, and absence Normal, generalized or Variable presentation with febrile seizures seizures focal spike-and-wave within families from plus Strong FHx, variable penetrance benign to catastrophic GEFS+ (AD. SCN1A, SCN1B, SCN2A, and GABARG2 mutations) AD Nocturnal Partial Onset: variable, infants to elderly Frontal sharp waves Nicotine Can be misdiagnosed Brief hypermotor seizures (identical to those from SMA) that patch, as night terrors or (ADNFL) tend to cluster & occur mainly during sleep. Includes fist Carbamazepi somnambulism. clenching, arm throwing, leg cycling, yelling, moaning, sleep ne, walking. (CHRNA encoding for nicotinic Ach Rc) Progressive Generalized Cognitive decline + tonic-clonic, tonic, or myoclonic seizures. Valproate 1st Associated with: Lamotrigine Lafora body disease, Unverricht-Lundborg disease (Baltic & ), Neuronal ceroid-lipofuscinosis, MERRF Clonazepam 2nd line Eye lid myoclonia Onset: peak around 6 years Brief 3 to 6 Hz Valproate, with absences Triad of: eyelid myoclonia with and without absences; eye generalized poly-spike clonazepam (Jeavons Syndrome) closure-induced seizures and EEG paroxysms; and and wave discharge & photosensitivity (to flickering light). levetiracetam Eye lid myoclonia: jerking of the eyelids with jerky upward deviation of the eyeballs and the head for few seconds.

Ahmed Koriesh NeurologyResidents.Net

Adolescent/Adults: Juvenile Myoclonic Generalized Onset: usually teenage (8-24) Generalized 4- to 6-Hz Valproate, Good but requires Epilepsy Myoclonic seizures on awakening polyspike-and wave Lamotrigine. lifelong treatment GTC – discharges in 75% of Levetiraceta Myoclonus can be triggered by reading, talking, photic patients m, stimulation topiramate, and zonisamide can be tried. Epilepsy With GTC Generalized Onset: 2nd decade Similar to Seizures on Awakening GTC on awakening. May have absence or myoclonic seizures. JME Idiopathic Reflex Onset: during puberty. Occipital or generalized Avoiding Occipital lobe seizures provoked by visual stimuli (TV, video spike-and-wave triggers ± Occipital games) mimic visual in migraine discharges enhanced with Valproate Lobe Epilepsy eye closure.

Rasmussen Partial Intractable and progressive focal seizures, hemiparesis, and Encephalitis cognitive regression. Slowly progressive cortical atrophy in MRI (Antibodies to glutamate receptor 3) Autosomal dominant Partial Hyperkinetic seizures at sleep-wake Normal or frontal Carbamazepi Usually good response frontal lobe epilepsy Transition. May have aura of fear. spikes ne to treatment (CHRNA4 and CHRNB2 mutations)

Familial temporal Partial Lateral and mesial Temporal spike or Carbamazepi Usually good response lobe epilepsy temporal forms sharp waves ne to treatment

Seizures that usually start in the setting of viral illness or fever: Febrile – GEF+ - Dravet – Doose Seizures associated with spasms: Ohtahara – West – AICARDI Causes of myoclonic seizures in children: Early myoclonic encephalopathies (EME, EIEE), Part of other generalized epileptic syndrome (Doose, Dravet, LGX), Non-progressive myoclonic (as benign neonatal myoclonic epilepsy, familial myoclonic epilepsy) Progressive myoclonic epilepsies (8 types mentioned below). Ahmed Koriesh NeurologyResidents.Net

Progressive Myoclonic

Myoclonic Syndrome Etiology Onset Features Diagnosis Treatment Baltic Myoclonus AR - EPM1 mutation Adolescence (6-16) Considered as least severe type of PME Genetics testing (Unverricht-Lundborg In Baltic countries Seizures: Myoclonic jerks, GTCs a, often misdiagnosed disease) (Estonia, Latvia and as JME in early stages Lithuania) Others: Cognitive decline is usually mild

Lafora body disease AR - EPM2A – EPM2B Adolescence (6-19) Considered a neurodegenerative disease Axillary skin Valproate – Glycogen storage disease, In Middle east Seizures: GTCs that responds to treatment while biopsy – Zonisamide accumulation of Lafora countries myoclonic jerks resistant to treatment. Genetic testing bodies (polyglucosan) Others: Severe dementia and ataxia

Neuronal Ceroid AR – CLN mutation Starts with loss of vision and seizure (myoclonic & GTC) Skin biopsy – Cystagon – Lipofuscinosis (NCL) Lysosomal storage disease, then severe developmental delay and death. Genetic testing Gene therapy accumulation of lipofuscin Infantile  Starts at 6m, blindness by 2 years and death by 4. – Enzyme assay pigments Late Infantile  Starts at 2 (Seizures and loss of vision), death at 10. Juvenile “Batten”  Starts at 4 years and death by 20-30 years Adult “Kuf’s”  Starts at 30 years and death by 40 years

Sialidosis AR – NEU1 mutation Sialidosis II: 1st year Coarse facial features with large tongue, gums, buffy Deficient Lysosomal storage disease eyelids, hepatomegaly, splenomegaly, neuraminidase Deficient Sialidase leads to Immunodeficiency with recurrent infections. in fibroblasts– accumulation of mucolipids Seizures: myoclonic jerks, GTC Genetic testing Death in first year of life.

Sialidosis II “Cherry red Less severe, starts between 10-20 years with Loss of spot myoclonus”: vision (Cherry red spot), ataxia, and severe myoclonus. GM2 gangliosidosis AR – HEXA mutation in Ashkenazi Jews and Marked developmental delay, seizures, child becomes Enzyme essay – (Tay-Sachs, Sandhoff, Lysosomal storage disease Cajuns of Louisiana blind (Cherry red spot), deaf, spastic and paralytic. Genetic testing AB Variant) ↓ activity of hexosaminidase All 3 disorders are identical – differ only in deficient leads to accumulation of Infantile  enz. gangliosides Juvenile  Starts at 6m, death at 4 years Adult  Starts at 2 years, death around 5-15 years Starts in adolescence with ataxia & spasticity, wheelchair bound in adulthood (misdiagnosed as Fredrick’s Ataxia) MERRF Mitochondrial Variable expression Myoclonic epilepsy – exercise intolerance – lactic (Fukuhara disease) – hearing loss and poor vision – ataxia – dementia Ahmed Koriesh NeurologyResidents.Net

Hallerverden Spatz AR - PANK2 mutation Before 10 years of Movement disorder: dystonia - athetosis – rigidity MRI with eye Limited disease (PKAN) age – tremors - Spasticity of tiger - success with (NBIA1) Seizures - Dementia Genetic Iron chelation & Pantothenate DRPLA AD – CAG expansion in More common in Ataxia (dentate/rubral) – Choreoathetosis Atrophin 1 gene Japan (pallidoluysian) – Seizures and myoclonus – dementia Juvenile onset: more pallidoluysian atrophy Adult onset: more dentate-rubral atophy

Interesting details: Lafora bodies: Polyglucosan is a glycogen with excessive phsophates and branching for excessively long intervals, due to either deficiency of Laforin enzyme which dephosphyralates normal glycogen and keeps it short or excess activity of glycogen synthase due to lack Malin that assists Protein phosphorylase to inactivate glycogen synthase. Tay-Sachs carriers (have only one allele) are protected against tuberculosis Cherry red spot: a common feature for all sphingolipidosis where sphingilipids accumulate in the ganglion layer of macular cells making it look pale, because the fovea lacks ganglion layer so it looks red in the middle of the macula. Combination of Myoclonic epilepsy and cherry red spot makes Lysosomal storage disease the first thought. NCL patients have Bull’s eye macula (not cherry red spot); also they have marked loss of vision which helps with clinical diagnosis. NBIA includes: PKAN – PLAN (PLA ass neurodegeneration) – MPAN (mitochondrial membrane protein) – BPAN (Beta propeller protein) – FAHN (Fatty acud hydroxylase) – CoPAN (CoA synthase protein) – aceruloplasminemia Luysian in DRPLA refers to: subthalamic nucleus which is also called "Body of Luys" or "Corpus Luysii" in honor of French anatomist Dr Jules Luys.