Seizure Syndromes Flashcards
Self-limited neonatal seizures / Self-limited Familial NEONATAL epilepsy Onset (1) End by (range + majority within \_\_\_) Seizure features (2*+4) Genetics (3) EEG features (3) Imaging:
Onset: 4-7 days of life Remit by: 4-6 months (majority by 6 weeks) Seizure features: - hemiclonic (most common) - Apnea and cyonosis seen in 1/3 - Tonic - Autonomic - Automatisms - Focal to bilateral tonic-clonic
Genetics:
- Autosomal dominant (self-limited familial neonatal epilepsy)
- De-novo (self-limited neonatal seizures
- Known genes = KCNQ2 (mc) KCNQ3
EEG features:
- Normal (10%)
- theta pointu alternant pattern (non-specific,runs of theta intermixed with sharp waves. Awake and asleep)
- focal or multifocal epileptiform abnormalities
Imaging:
- Normal
AKT3
- Location
- Disorder
Location: 1q44
Disorder: megalencephaly-polymicrogyria-polydactyly-hydrocephalus
ARFGEF2
- Location
- Protein function
- Disorder
Location: 20q13.13
function: role in movement of vesicles, important in fetal neuronal cell migration
Disroder: periventricular nodular heterotopia with microcephaly
ARHGEF9
- Location
- disorder
Location: Xq11.1
Disorder: Otahara Syndrome with hyperrekplexia
- seizures may be provoked by tactile stimulation or extreme emotion
ARX
- Location
- Function
- Disorders
Location: Xp21.3
Function: important transcription factor in early embryonic development of pancreas, testes, brain, and skeletal muscles
Disorder
- Partington syndrome (intellectual impairment and focal dystonia of hands)
- Otahara syndrome
- X-linked West syndrome
- X-linked generalized epilepsy with myoclonic seizures and intellectual disability
- x-linked structural brain abnormalities such as lissencephaly
- Account for nearly 10% of all x-linked intellectual impairment.
CACNA1A
Name + Function
Location
Disorders
calcium channel, voltage-dependent, P/Q type, alpha1Asubunit, encodes alpha-1 subunit of a calcium channel
Location: 19p13
Disorders
- episodic ataxia
- familial hemiplegic migraine
- spinocerebellar ataxia type 6
- linked to susceptibility to geneteic generalized epilepsies with absence seizures
CHRNA4
- Name and function
- location
- disorder
cholinic receptor, nicotinic, alpha4 > neuronal nicotinic acetylcholine receptor
Location: 20q13.2-q13.3
Disorders: Autosomal dominant nocturnal frontal lobe epilepsy
CHRNB2
- Name and function
- Location
- Disorder
cholinic receptor, nicotinic, beta2Neuronal nicotinic acetylcholine receptor
location: 1q21.3
Disorder: autosomal dominant nocturnal frontal lobe epilepsy
CHRNA2
- Name and location
- Location
- Disorder
cholinic receptor, nicotinic, alpha4 > neuronal nicotinic acetylcholine receptor
Location: 8p21
Disorders: Autosomal dominant nocturnal frontal lobe epilepsy
CACNB4
- Name
- Location
- disorders
calcium channel, voltage-dependent, beta 4 subunit
Location: 2q22-q23
Disorder:
- episodic ataxia
- genetic / idiopathic generalized epilepsies (including JME)
CDLK5
- name
- location
- important other affected protein
Cyclin-dependent kinase-like5
location: xp22
Also affects MECP2
Disorders:
- atypical Rett (severe disorder, as well as recurrent seizures beginning in infancy)
- X-linked epileptic spasms with intelllectual impairment (F>M)
- Ohtahara syndrome
CHD2
- Location
- disorders
Location: 15q26
Disorders:
- epilepsy of infancy with migrating features
CLCN2
- Location
- Disorders
chloride channel, voltage-sensitive 2
Location: 3q27.1
Disorders:
- genetic/idiopathic generalized epilepsie (including JAE, HME, and epilepsy with GTC alone)
COL4A1
Collagen type IV alpha 1
Location: 13q34
Function: important in basement membranes
Disorders:
- familial early life stroke > “familial porencephaly”
- small number of schizencephaly patients
DCX
Doublecortin gene
Location: xq22.3-q23
- binds to and is important in microtubules
- lissencephaly or subcortical band heterotopia
DEPDC5
Location: 22q12.3
Disorders:
- familial focal epilepsy with variable foci
- familial temporal lobe epilepsy
- autosomal dominant nocturnal frontal lobe epilepsy
- focal cortical dysplasia
EFHC1
EF hand domain (c-terminal) containing 1
Location: Chromosome 6p12.3
Function: interacts with calcium channel
Conditions: has been linked to JME
FKRP
Fukutin related protein gene location: 19q13.32 Conditions: Walker-Warburg syndrome - Cobblestone lissencephaly - eye abnormality - myopathy
FKTN
fukutin gene (not related protein) location: 9q31.2 Conditions: - Fukuyama congenital muscular dystrophy - Walker-warburg syndrome BOTH have cobblestone lissencephaly, eye abnormaliites, and myopathy. Walker-warburg is just more severe
FLNA
Filamin A gene
Location: Xq28
Disorders: periventricular heterotopia
FMR1
Fragile X mental retardation 1 gene
Most common cause for familial intellectual impairment and second most common cause (behind T21)
- Epilepsy in 40% of patients
- Seizures and EEG features similar to CECS, and improve with age
FOXG1
Forkhead box G1 (FOXG1 Location: 14q23 Disorders from MUTATIONS - congenital variant of Rett (severe intellectual impairment, microcephaly, jerky limb movements, epilepsy, and absent language development - No early period of normal development
Disorders from DUPLICATIONS
- Epileptic spasms
- or
- intractable seizures with developmental and intellectual impairment
GABRA1
Gamma-aminobutyric acid a receptor alpha 1 subunit
Location: 5q34
Disorders
= Genetic / generalized epilepilepsies (such as JME)
GABRD
Gamma-aminobutyric acid (GABA) A receptor Gamma 2 subunit
Location: 5q34
Disorders
- Genetic / idiopathic generalized epilepsies (such as CAE, GEFS+, JME)
GLI3
GLI family zinc finger 3
Location: 7p13
Function; improtant in gene expression / brain development
Disorders:
- Hypothalamic Hamartoma and/or polydactyly
- Pallister Hall syndrome
GNAQ
G protein subunit alpha 1 gene
Location: 9q21
Disorders: Sturge-Weber
GRIN2A
Glutamate receptor, inosotropic, N-Methyl D aspartate 2A Lcoation 16p13.2 Disorders - CECS - Atypical CECS - Epileptic encephalopathy with CSWS - Landau Kleffner
KCNQ2
Potassium voltage-gated KQT-like subfamily, member 2
Location: 20q13.3
Disorders
- self limited familial neonatal epilepsies
- one otahara-like syndrome that remits with age (but with severe neurologic impairment),
MRI can show hyperintensities in basal ganglia and thalamus that later resolve
KCNQ3
potassium voltage-gated channel, KQT-like subfamily, member 3
Location: 8q24
Disorders
- Self limited familial neonatal epilepsy
KCNT1
potassium channel, subfamily T, member 1
Location: 9q34.3
Disorders
- Autosomal dominant nocturnal frontal lobe epielpsy
- epilepsy of infancy with migrating focal seizures
LARGE
Like-glycosyltransferase gene
Location: 22q12.3
Disorders
- Walker-walburg syndrome (cobblestone lissencephaly, eeye abnormality and myopathy)
LGI1
leucine-rich glioma inactivated 1 gene
Location: 10q24
Disorders:
- Autosomal dominant epilepsy with auditory features
LIS1
Lissencephaly 1, AKA PAFAH1B1 (platelet activating factor acetylhydrolase regulatory subunit 1)
Location: 17p13.3
Disorders:
- Lissencephaly, alone or as part of Miller-Dieker syndrome
