复旦大学：《医学遗传学 Medical Genetics》课程教学资源（学习报告）Rady_Epilepsy

Epilepsy Rady

Epilepsy Rady

Introduction Epilepsy is chronic neurological disorder Characterized by recurrent unprovoked seizures Seizures are transient signs of abnormal excessive or synchronous neural activity 50 million worldwide. 90% in developing countries More in young children and over 65, but can occur anytime

Introduction • Epilepsy is chronic neurological disorder • Characterized by recurrent unprovoked seizures • Seizures are transient signs of abnormal, excessive or synchronous neural activity • 50 million worldwide. 90% in developing countries • More in young children and over 65, but can occur anytime

Epilepsy can only be controlled, not cured However 30 are not a ble to be controlled Not a single disorder but convergence of vast divergent symptoms involving episodic abnormal electrical activity in brain Classified by Cause observable manifestations Location Identified medical syndromes Trigger

• Epilepsy can only be controlled, not cured. • However 30 % are not able to be controlled. • Not a single disorder but convergence of vastly divergent symptoms involving episodic abnormal electrical activity in brain. • Classified by – Cause – Observable manifestations – Location – Identified medical syndromes – Trigger

Can be partial or generalized Absence seizure 40 different types Rectrice the brain Children behaviors include Neuron Inattentive staring Benign shudders electrical slo Nodding, rocking, head banging Copyright e 2D01 yiebMD. Caperton Conversion disorder(flailing and jerking of the head

• Can be partial or generalized • 40 different types • Children behaviors include – Inattentive staring – Benign shudders – Nodding, rocking, head banging – Conversion disorder (flailing and jerking of the head)

Management of seizure Prevent patient from self-injury Snoring indicates normal breathing If reguritation occurs, place in recovery position Emergency medical treatment needed for >5 mIns Do not place objects in mouth Let seizure take its own course Surgery very rare, for those meds cannot control -or tumor or arteriovenous malformations

Management of seizure • Prevent patient from self-injury • Snoring indicates normal breathing • If reguritation occurs, place in recovery position • Emergency medical treatment needed for >5 mins • Do not place objects in mouth. • Let seizure take its own course • Surgery very rare, for those meds cannot control – or tumor or arteriovenous malformations

Patients often exhausted and confused Occasionally, patients lose bladder and or bowel control Anticonvulsant medication Often lifelong Can have major effects on quality of life Earliest is bromide(1857) Potassium bromide - impotence in men Phenobarbital ( 1912) Phenytoin(1930) currently about 20 common ones

• Patients often exhausted and confused • Occasionally, patients lose bladder and or bowel control • Anticonvulsant medication – Often lifelong – Can have major effects on quality of life – Earliest is bromide (1857) – Potassium bromide – impotence in men. – Phenobarbital (1912) – Phenytoin (1930) – Currently about 20 common ones

The genetics Mutations in several genes linked to some types of epilepsy Mainly in protein subunits of voltage-gated and ligand-gated ion channels Some inherited ones believed to be genes for sodium ion channels(stay open too long Glutamate neurotransmitter(Ca 2+) GABA

The genetics • Mutations in several genes linked to some types of epilepsy • Mainly in protein subunits of voltage-gated and ligand-gated ion channels • Some inherited ones believed to be genes for: – sodium ion channels (stay open too long) – Glutamate neurotransmitter (Ca2+) – GABA

Chromosome 10 Partial epilepsy -originally thought to be from head injury vascular disease or brain development problems Chromosome 10 Single family study 8-19 yrs old onset for 11 members Humming noise before seizure twitching on one side Actual mutation not found but narrowed to Chromosome 10

Chromosome 10 • Partial epilepsy - originally thought to be from head injury, vascular disease or brain development problems • Chromosome 10 • Single family study (8-19 yrs old onset for 11 members) • Humming noise before seizure, twitching on one side. • Actual mutation not found, but narrowed to Chromosome 10

Extra X, Y and epilepsy Extra xin women Extra y in men XO women Sex chromosome extra or lacking thereof, linked with higher epilepsy counterparts than their healthy counterparts

Extra X, Y and epilepsy • Extra X in women • Extra Y in men • XO women • Sex chromosome extra or lacking thereof, linked with higher epilepsy counterparts than their healthy counterparts

Chromosome 15 Microdeletions in chromosome 15q133 Deletions found only in patient and not in controls Study in 2009 in Nature Genetics

Chromosome 15 • Microdeletions in chromosome 15q13.3 • Deletions found only in patient and not in controls. • Study in 2009 in Nature Genetics