Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Epilepsy syndrome

In genetic disorders epilepsy often is syndomatic. Genetic syndromes that include epilepsy are collected in this group.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Ataxia-pancytopenia syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Epilepsy syndrome
Isolated focal cortical dysplasia type 2
MTOR
TSC1
TSC2
Hereditary benign chorea
Hereditary brain tumors
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Tuberous sclerosis complex
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

None (2011) Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?

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2.

None (2009) The concept of the epilepsy syndrome: how useful is it in clinical practice?

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3.

Sadleir LG et al. (2015) Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome.

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4.

Pardo CA et al. (2014) Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES).

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Update: Aug. 26, 2020
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