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Epilepsy Review > Seizure Syndromes > Flashcards

Seizure Syndromes Flashcards

1
Q 
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:
A 
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

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2
Q

AKT3

  • Location
  • Disorder
A

Location: 1q44
Disorder: megalencephaly-polymicrogyria-polydactyly-hydrocephalus

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3
Q

ARFGEF2

  • Location
  • Protein function
  • Disorder
A

Location: 20q13.13
function: role in movement of vesicles, important in fetal neuronal cell migration
Disroder: periventricular nodular heterotopia with microcephaly

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4
Q

ARHGEF9

  • Location
  • disorder
A

Location: Xq11.1
Disorder: Otahara Syndrome with hyperrekplexia
- seizures may be provoked by tactile stimulation or extreme emotion

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5
Q

ARX

  • Location
  • Function
  • Disorders
A

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.

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6
Q

CACNA1A
Name + Function
Location
Disorders

A

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

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7
Q

CHRNA4

  • Name and function
  • location
  • disorder
A

cholinic receptor, nicotinic, alpha4 > neuronal nicotinic acetylcholine receptor
Location: 20q13.2-q13.3
Disorders: Autosomal dominant nocturnal frontal lobe epilepsy

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8
Q

CHRNB2

  • Name and function
  • Location
  • Disorder
A

cholinic receptor, nicotinic, beta2Neuronal nicotinic acetylcholine receptor
location: 1q21.3
Disorder: autosomal dominant nocturnal frontal lobe epilepsy

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9
Q

CHRNA2

  • Name and location
  • Location
  • Disorder
A

cholinic receptor, nicotinic, alpha4 > neuronal nicotinic acetylcholine receptor
Location: 8p21
Disorders: Autosomal dominant nocturnal frontal lobe epilepsy

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10
Q

CACNB4

  • Name
  • Location
  • disorders
A

calcium channel, voltage-dependent, beta 4 subunit
Location: 2q22-q23
Disorder:
- episodic ataxia
- genetic / idiopathic generalized epilepsies (including JME)

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11
Q

CDLK5

  • name
  • location
  • important other affected protein
A

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

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12
Q

CHD2

  • Location
  • disorders
A

Location: 15q26
Disorders:
- epilepsy of infancy with migrating features

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13
Q

CLCN2

  • Location
  • Disorders
A

chloride channel, voltage-sensitive 2
Location: 3q27.1
Disorders:
- genetic/idiopathic generalized epilepsie (including JAE, HME, and epilepsy with GTC alone)

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14
Q

COL4A1

A

Collagen type IV alpha 1
Location: 13q34
Function: important in basement membranes
Disorders:
- familial early life stroke > “familial porencephaly”
- small number of schizencephaly patients

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15
Q

DCX

A

Doublecortin gene
Location: xq22.3-q23
- binds to and is important in microtubules
- lissencephaly or subcortical band heterotopia

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16
Q

DEPDC5

A

Location: 22q12.3
Disorders:
- familial focal epilepsy with variable foci
- familial temporal lobe epilepsy
- autosomal dominant nocturnal frontal lobe epilepsy
- focal cortical dysplasia

17
Q

EFHC1

A

EF hand domain (c-terminal) containing 1
Location: Chromosome 6p12.3
Function: interacts with calcium channel
Conditions: has been linked to JME

18
Q

FKRP

A 
Fukutin related protein gene
location: 19q13.32
Conditions: Walker-Warburg syndrome
- Cobblestone lissencephaly
- eye abnormality
- myopathy
19
Q

FKTN

A 
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
20
Q

FLNA

A

Filamin A gene
Location: Xq28
Disorders: periventricular heterotopia

21
Q

FMR1

A

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

22
Q

FOXG1

A 
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
23
Q

GABRA1

A

Gamma-aminobutyric acid a receptor alpha 1 subunit
Location: 5q34
Disorders
= Genetic / generalized epilepilepsies (such as JME)

24
Q

GABRD

A

Gamma-aminobutyric acid (GABA) A receptor Gamma 2 subunit
Location: 5q34
Disorders
- Genetic / idiopathic generalized epilepsies (such as CAE, GEFS+, JME)

25
Q

GLI3

A

GLI family zinc finger 3
Location: 7p13
Function; improtant in gene expression / brain development
Disorders:
- Hypothalamic Hamartoma and/or polydactyly
- Pallister Hall syndrome

26
Q

GNAQ

A

G protein subunit alpha 1 gene
Location: 9q21
Disorders: Sturge-Weber

27
Q

GRIN2A

A 
Glutamate receptor, inosotropic, N-Methyl D aspartate 2A
Lcoation 16p13.2
Disorders
- CECS
- Atypical CECS
- Epileptic encephalopathy with CSWS
- Landau Kleffner
28
Q

KCNQ2

A

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

29
Q

KCNQ3

A

potassium voltage-gated channel, KQT-like subfamily, member 3
Location: 8q24
Disorders
- Self limited familial neonatal epilepsy

30
Q

KCNT1

A

potassium channel, subfamily T, member 1
Location: 9q34.3
Disorders
- Autosomal dominant nocturnal frontal lobe epielpsy
- epilepsy of infancy with migrating focal seizures

31
Q

LARGE

A

Like-glycosyltransferase gene
Location: 22q12.3
Disorders
- Walker-walburg syndrome (cobblestone lissencephaly, eeye abnormality and myopathy)

32
Q

LGI1

A

leucine-rich glioma inactivated 1 gene
Location: 10q24
Disorders:
- Autosomal dominant epilepsy with auditory features

33
Q

LIS1

A

Lissencephaly 1, AKA PAFAH1B1 (platelet activating factor acetylhydrolase regulatory subunit 1)
Location: 17p13.3
Disorders:
- Lissencephaly, alone or as part of Miller-Dieker syndrome

Epilepsy Review (2 decks)

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