Familial Febrile Seizures (FS) Generalized Epilepsy with Febrile Seizures Plus (GEFS+) Intractable Childhood Epilepsy with

th Generalized Tonic Clonic Seizures (ICEGTC) Severe Infantile Multifocal Epilepsy (SIMFE) Severe Myoclonic Epilepsy Borderline (SMEB) Severe Myoclonic Epilepsy of Infancy (SMEI); also called Dravet Syndrome

Febrile seizures are caused by a high or rapidly rising temperature, often due to illness or vaccination. These are usually tonic clonic or hemiclonic seizures. Tonic clonic seizures involve a stiffening of the arms and legs (tonic phase), followed by jerking of the arms, legs, and head (clonic phase). Hemiclonic seizures are similar, though only one side of the body convulses. Last only a few seconds to a few minutes and end without need for medical intervention. very common in childhood not associated with a genetic form of epilepsy
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intermediate form of the Dravet Spectrum Disorders. Seizures begin between infancy and 3 years of age. starts with febrile seizures, which may last until age 6 followed by Afebrile seizures may persist beyond that age

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Intractable Childhood Epilepsy with Generalized Tonic Clonic Seizures (ICE-GTC) is a more severe disorder than GEFS+. The key feature in ICE-GTC is intractable (more frequent and severe) first seizures usually happen before one year of age, with no known cause other than fever or illness. Tonic clonic seizures are seen most often. These involve a stiffening of the arms and legs (tonic phase) and jerking of the arms, legs, and head (clonic phase). Tonic clonic seizures are also called grand mal seizures.

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Severe myoclonic epilepsy borderline (SMEB) is a term that is used to describe a subset of Dravet syndrome patients having less severe symptoms and moderate, rather than severe, developmental delays. Myoclonic seizures are not typical in SMEB.

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Severe Infantile Multifocal Epilepsy (SIMFE): begins in the first year of life, with no known cause other than fever distinguished by multifocal seizures rather than generalized seizures typical in other Dravet spectrum Children with SIMFE are likely to have simple partial seizures or complex partial seizures refractory, which means that seizures are hard to control with antiepilepsy medicines.

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Dravet Syndrome (DS) was named after Charlotte Dravet who described this condition for the first time in 1978 as severe myoclonic epilepsy (SME), in a group of intractable epilepsy. key features of Dravet syndrome are febrile seizures and status epilepticus.

severe myoclonic epilepsy in infancy (SMEI) polymorphic epilepsy in infancy (PMEI) epilepsy with polymorphic seizures

"Dravet syndrome" (DS) previously named severe myoclonic epilepsy of infancy (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized), which are typically resistant to antiepileptic drugs

A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. a syndromic autosomal dominant disorder where afflicted individuals can exhibit numerous epilepsy phenotypes. GEFS+ can persist beyond early childhood (i.e., 6 years of age)

encompass

disorders: 1. severe myoclonic epilepsy of infancy (SMEI), which is also known as Dravet's syndrome, 2. borderline SMEI (SMEB) 3. intractable epilepsy of childhood (IEC)

three other epilepsy

CAUSATIVE GENES: 1. Sodium channel subunit genes SCN1A 2. associated subunit SCN1A 3. GABAA receptor subunit gene 4. GABRG2 5. the PCDH19 a.ka. Epilepsy Female with Mental Retardation

tonic-clonic seizures almost always triggered by fever first febrile seizures episode is usually protracted afebrile seizures are more frequently unilateral, tonic clonic, or secondary generalized, evolving later on towards other types of epilepsy including myoclonic, atypical absence, and atonic seizures, alternating partial seizures and convulsive status epilepticus.

Recurrent status epilepticus provoked by fever Myoclonic seizures Generalized seizures Tonic seizures

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STAGE: regression hyperactivity language deterioration mental retardation

 behavioral and developmental delays movement and balance issues orthopedic conditions delayed language and speech issues growth and nutrition issues sleeping difficulties chronic infections sensory integration disorders disruptions of the autonomic nervous system

mainly based on seizure history clinical aspects neurologic examination EEG pattern and a long observation DNA analysis with the evaluation of the SCN1A gene CONFIRMATORY test Neuroimaging Studies (CT-scan & MRI)

Simple febrile seizures onset is mainly between 6 and 18 months, with tonic-clonic fits lasting < 15 minutes. The onset of FS in DS is within the first 6 months, they are more often unilateral, clonic and long lasting as febrile status. Benign myoclonic epilepsy is accompanied by generalized spike and waves in the EEG and the myoclonic attacks are the only ictal manifestation

LGS starts later without FS with tonic attacks which are not evident in DS. The EEG shows diffuse 2/3 Hz spikes and waves. The differentiation between DS and MAE is very difficult, but in DS the drop attacks are not recurrent. Progressive myoclonic epilepsies can be excluded because of the progressive worsening of symptoms and of the presence of metabolic dysfunction signs and progressive encephalopathy

The prognosis is unfavourable in the majority of cases. All patients have drug resistant seizures that tend to persist throughout life. FS stop and the other seizures became less evident in the 2nd decade of life. The EEG anomalies are persistent.

Myoclonic seizures are very resistant to therapy and the period of the high recurrence of these seizures is associated with more severe neuropsychological impairment. Mental retardation is constant together with other neurological symptoms, like ataxia and spasticity. The convulsions are long lasting, status epileptics and the high recurrence of the episodes, particularly in the first years of life, deteriorate the brain function contributing to the neurological problems of these patients.

Antiepileptic medicines that may help patients with Dravet Spectrum Disorders: clobazam (ONFI, Frisium, Urbanyl) clonazepam (Klonipin, Rivotril) divalproex sodium and derivatives (Depakote, Depakene, Epilim, Epival, Micropakin) levetiracetam (Keppra) stiripentol (Diacomit)* topiramate (Topomax) *available in the European Union only.

carbamazepine (Tegretol, Calepsin, Cargagen, Barbatrol, Epitol Finlepsin, Sirtal, Stazepine) fosphenytoin (Cerebyx, Prodilantin) lamotrigine (Lamictal) oxcarbazepine (Trileptal) phenytoin (Dilantin, Epanutin) vigabatrin (Sabril, Sabrilan, Sabrilex)

Benzodiazepine class such as: clonazepam (Klonopin), diazepam (Diastat, Valium), lorazepam (Ativan), or midazolam

Ketogenic Diet (KD) Vagus Nerve Stimulation (VNS)

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