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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
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Heritable genetic syndromes with epilepsy

Heritable genetic syndromes with epilepsy
Epilepsy syndrome Typical history Family history Genes Inheritance pattern Penetrance Other comments
Autosomal dominant lateral temporal epilepsy (ADLTE) Auditory (rarely visual) aura may progress to bigger seizures. Common, but may be absent

LGI1

RELN
Autosomal dominant 54 to 85% Typically mild syndrome.
Familial focal epilepsy with variable foci (FFEVF)

Nocturnal hypermotor seizures common.

Seizure types can change for individual or within family.
Common, but may be absent

DEPDC5

NPRL3

NPRL2
Autosomal dominant

60%

Variable expressivity: Syndrome severity varies
 
FLNA-associated periventricular nodular heterotopia

Focal or multifocal seizures.

Characteristic MRI with nodules lining the ventricles, typically bilaterally.
May be absent FLNA X-linked High Male fetuses of affected mother have 50% risk of inheriting pathogenic variant and having a congenital syndrome with risk of perinatal death.
Genetic epilepsy with febrile seizures plus (GEFS+)/SCN1A spectrum disorder Range from febrile seizures to febrile seizure followed by later-onset epilepsy (GEFS+) to developmental and epileptic encephalopathy (including Dravet syndrome). Common, but variable SCN1A Autosomal dominant

Variable penetrance

Variable expressivity: Syndrome severity varies
Seizures may be focal and/or generalized.
Mitochondrial disorder

Varies by syndrome.

Some hallmarks include:
  • Diabetes
  • Hearing loss
  • Short stature
  • Status epilepticus
  • Myoclonus
  • Myopathy
Variable Many

Typically mitochondrial (maternal) inheritance.

Some nuclear genes encode mitochondrial proteins and have autosomal dominant or recessive inheritance.
Variable  
Tuberous sclerosis complex

Epilepsy type can range from infantile spasms to focal epilepsy; variable age of onset.

Can occur with or without neurocognitive comorbidities.

Characteristic skin/eye findings.

Cortical dysplasia/cortical tubers.

With or without SEGA.
May be absent

TSC1

TSC2
Autosomal dominant High In utero screening recommended and treatment available.
MRI: magnetic resonance imaging; SEGA: subependymal giant cell astrocytoma.
Graphic 142076 Version 1.0

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