Infantile Epileptic-Dyskinetic Encephalopathy

Also Known As:

Early Infantile Epileptic Encephalopathy; Epileptic Encephalopathy, Early Infantile, 1; Infantile Spasm Syndrome, X-Linked 1; Ohtahara Syndrome; West Syndrome, X-Linked; X-Linked West Syndrome; X-linked infantile spasm syndrome; X-linked infantile spasms

Networked: 120 relevant articles (5 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Epilepsy: 37791
      - Generalized Epilepsy: 896
        Infantile Spasms: 1454
        Infantile Epileptic-Dyskinetic Encephalopathy: 120
      - Epileptic Syndromes: 883
        Infantile Spasms: 1454
        Infantile Epileptic-Dyskinetic Encephalopathy: 120

Related Diseases

1.	Seizures (Absence Seizure)
2.	Epilepsy (Aura)
3.	Myoclonic Epilepsies (Myoclonic Encephalopathy)
4.	Epileptic Syndromes
5.	Malformations of Cortical Development

Experts

1.	Meisler, Miriam H: 5 articles (08/2018 - 05/2015)
2.	Striano, Pasquale: 4 articles (08/2022 - 04/2017)
3.	Campeau, Philippe M: 3 articles (11/2021 - 01/2017)
4.	Isom, Lori L: 3 articles (10/2020 - 08/2018)
5.	Matsumoto, Naomichi: 3 articles (01/2018 - 01/2012)
6.	Saitsu, Hirotomo: 3 articles (01/2018 - 01/2012)
7.	Milh, Mathieu: 3 articles (12/2017 - 03/2014)
8.	Kato, Mitsuhiro: 3 articles (04/2016 - 08/2007)
9.	Scheffer, Ingrid E: 3 articles (09/2015 - 08/2002)
10.	Accogli, Andrea: 2 articles (08/2022 - 11/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Infantile Epileptic-Dyskinetic Encephalopathy:

1.	Sodium Channel BlockersIBA 04/01/2017 - "Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy." 10/01/2020 - "All three infants share a condition different from Ohtahara syndrome in which tonic spasms predominate and suppression-burst pattern is obvious, and from EMPSI, in which partial migrating discharges involve successively the various parts of the brain including occipital regions with oculoclonic seizures, but there is neither discontinuous pattern nor therapeutic response to sodium channel blockers. " 09/15/2015 - "The epileptic syndrome at presentation was epilepsy of infancy with migrating focal seizures (EIMFS) in 7 and Ohtahara syndrome in 2. Nine patients had improved seizure control with sodium channel blockers including supratherapeutic or high therapeutic phenytoin levels in 5. Eight had severe to profound developmental impairment. "
2.	Anticonvulsants (Antiepileptic Drugs)IBA 05/01/2015 - "To describe the antiepileptic drug (AED) treatment of patients with early infantile epileptic encephalopathy due to KCNQ2 mutations during the neonatal phase and the first year of life. " 03/01/2016 - "The most common epileptic encephalopathies are Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, West syndrome and Dravet syndrome, which are usually unresponsive to traditional antiepileptic medication. " 11/01/2002 - "Chloral hydrate (58 mg/kg/day) was used for a short-term administration in a 5-week-old female with typical features of cryptogenic Ohtahara syndrome after the failure of conventional antiepileptic drugs. " 01/01/2019 - "We therefore describe a case of de novo KCNQ2-related neonatal convulsions with necessity of multiple anticonvulsants for the control of seizures, mutation occurring in the pore channel of the voltage-gated potassium channel subfamily Q member 2 associated with a likely benign course; furthermore, the same mutation of the KCNQ2 gene and a similar one (c.854C>A/p.P285H) have already been described in association with Ohtahara syndrome. " 06/01/2013 - "We present the cases of a 1-month-old infant diagnosed as having malignant migrating partial epilepsy of infancy and a 2-month-old infant with Ohtahara syndrome, who both presented with severe refractory status epilepticus and were treated with potassium bromide when all other antiepileptic drugs failed. "
3.	Zonisamide (Zonegran)FDA LinkGeneric 10/01/2000 - "Zonisamide treatment of early infantile epileptic encephalopathy." 10/01/2000 - "A case of early infantile epileptic encephalopathy with suppression-bursts (EIEE or Ohtahara syndrome) with an excellent response to zonisamide is reported. " 02/01/2006 - "Zonisamide is also efficacious in paediatric epilepsy syndromes, including Lennox-Gastaut Syndrome, West Syndrome and Ohtahara Syndrome. " 08/01/2015 - "For focal seizures, levetiracetam is effective (strong evidence); for generalized seizures, weak evidence supports levetiracetam, valproate, lamotrigine, topiramate, and clobazam; for Dravet syndrome, strong evidence supports that stiripentol is effective (in combination with valproate and clobazam), whereas weak evidence supports that topiramate, zonisamide, valproate, bromide, and the ketogenic diet are possibly effective; and for Ohtahara syndrome, there is weak evidence that most antiepileptic drugs are poorly effective. "
4.	Valproic Acid (Depakote)FDA LinkGeneric 11/01/2019 - "ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV." 08/01/2015 - "For focal seizures, levetiracetam is effective (strong evidence); for generalized seizures, weak evidence supports levetiracetam, valproate, lamotrigine, topiramate, and clobazam; for Dravet syndrome, strong evidence supports that stiripentol is effective (in combination with valproate and clobazam), whereas weak evidence supports that topiramate, zonisamide, valproate, bromide, and the ketogenic diet are possibly effective; and for Ohtahara syndrome, there is weak evidence that most antiepileptic drugs are poorly effective. "
5.	Levetiracetam (Keppra)FDA LinkGeneric 01/01/2013 - "[Successful treatment with levetiracetam in a case of Ohtahara syndrome caused by STXBP1 mutation]." 08/01/2015 - "For focal seizures, levetiracetam is effective (strong evidence); for generalized seizures, weak evidence supports levetiracetam, valproate, lamotrigine, topiramate, and clobazam; for Dravet syndrome, strong evidence supports that stiripentol is effective (in combination with valproate and clobazam), whereas weak evidence supports that topiramate, zonisamide, valproate, bromide, and the ketogenic diet are possibly effective; and for Ohtahara syndrome, there is weak evidence that most antiepileptic drugs are poorly effective. "
6.	Phenytoin (Dilantin)FDA LinkGeneric 09/15/2015 - "The epileptic syndrome at presentation was epilepsy of infancy with migrating focal seizures (EIMFS) in 7 and Ohtahara syndrome in 2. Nine patients had improved seizure control with sodium channel blockers including supratherapeutic or high therapeutic phenytoin levels in 5. Eight had severe to profound developmental impairment. "
7.	CannabidiolIBA 01/01/2020 - "We observed that cannabidiol supplements were highly effective in treating an infant boy with drug-resistant early infantile epileptic encephalopathy, eliminating his intractable tonic seizures. " 01/01/2020 - "Report of a 6-month-old Asian infant with early infantile epileptic encephalopathy whose seizures were eliminated by cannabidiol."
8.	BromidesIBA 08/01/2015 - "For focal seizures, levetiracetam is effective (strong evidence); for generalized seizures, weak evidence supports levetiracetam, valproate, lamotrigine, topiramate, and clobazam; for Dravet syndrome, strong evidence supports that stiripentol is effective (in combination with valproate and clobazam), whereas weak evidence supports that topiramate, zonisamide, valproate, bromide, and the ketogenic diet are possibly effective; and for Ohtahara syndrome, there is weak evidence that most antiepileptic drugs are poorly effective. "
9.	Clobazam (HR 376)IBA 08/01/2015 - "For focal seizures, levetiracetam is effective (strong evidence); for generalized seizures, weak evidence supports levetiracetam, valproate, lamotrigine, topiramate, and clobazam; for Dravet syndrome, strong evidence supports that stiripentol is effective (in combination with valproate and clobazam), whereas weak evidence supports that topiramate, zonisamide, valproate, bromide, and the ketogenic diet are possibly effective; and for Ohtahara syndrome, there is weak evidence that most antiepileptic drugs are poorly effective. "
10.	Topiramate (Topamax)FDA LinkGeneric 08/01/2015 - "For focal seizures, levetiracetam is effective (strong evidence); for generalized seizures, weak evidence supports levetiracetam, valproate, lamotrigine, topiramate, and clobazam; for Dravet syndrome, strong evidence supports that stiripentol is effective (in combination with valproate and clobazam), whereas weak evidence supports that topiramate, zonisamide, valproate, bromide, and the ketogenic diet are possibly effective; and for Ohtahara syndrome, there is weak evidence that most antiepileptic drugs are poorly effective. "

Therapies and Procedures

1.	Ketogenic Diet 01/01/2011 - "[The ketogenic diet as an effective treatment for Ohtahara syndrome]." 01/01/2015 - "Substantial and sustained seizure reduction with ketogenic diet in a patient with Ohtahara syndrome." 01/01/2015 - "We report the appearance of distinct resonances associated with a ketogenic diet in a male infant presenting with Ohtahara syndrome. " 01/01/2011 - "Therefore, we recommend that doctors who treat Ohtahara syndrome consider using the ketogenic diet earlier in the treatment regimen if the patient does not seem to be responding to conventional drug therapies." 01/01/2015 - "We report on a 5-year-old child with Ohtahara syndrome, whose seizures failed to improve with all known medications, continued to show persistent suppression-burst pattern on the electroencephalography (EEG) and had substantial reduction in seizure frequency for one year post-initiation of ketogenic diet. "
2.	Hemispherectomy 01/01/2007 - "Hemispherectomy in early infantile epileptic encephalopathy." 03/01/2015 - "We report on the youngest infant treated with modified functional hemispherectomy at the age of 5 months for Ohtahara syndrome and hemimegalencephaly as underlying pathology, and we depict the favorable outcome regarding seizure control and psychomotor development. " 03/01/2015 - "Early modified functional hemispherectomy in a young infant with Ohtahara syndrome and hemimegalencephaly."
3.	Therapeutics 11/01/1998 - "[Liposteroid therapy in a case of early infantile epileptic encephalopathy with suppression burst]." 03/01/2002 - "High-dose phenobarbital therapy should be considered for the treatment of early infantile epileptic encephalopathy with suppression bursts." 03/01/2002 - "Oral high-dose phenobarbital therapy for early infantile epileptic encephalopathy." 03/01/2002 - "We report oral high-dose phenobarbital therapy for a patient with early infantile epileptic encephalopathy with suppression bursts (Ohtahara syndrome). "
4.	Transcranial Direct Current Stimulation 01/01/2019 - "We investigated the clinical impact of repetitive (20 daily sessions) cathode-centered 4 × 1 HD-tDCS (1 mA, 20 min, 4 mm ring radius) over the dominant seizure-generating cortical zone in a 40-month-old child suffering from a severe neonatal epileptic syndrome known as Ohtahara syndrome (OS). "
5.	Drug Therapy (Chemotherapy) 01/01/2011 - "Therefore, we recommend that doctors who treat Ohtahara syndrome consider using the ketogenic diet earlier in the treatment regimen if the patient does not seem to be responding to conventional drug therapies."