Paula and Bobby
Parents of Lillie
Epileptic Encephalopathy, Early Infantile
What is Epileptic Encephalopathy, Early Infantile?
Also known as Ohtahara syndrome, this rare disease presents with infantile spasms. These spasms and seizures usually occur in the days following birth, and the syndrome is usually apparent in an affected individual before the first year of life.
This syndrome is also known as:
Epilepsy - infantile epileptic encephalopathy Epilepsy - limited to females, familial Epilepsy, Female-restricted, With Mental Retardation; Efmr Juberg-hellman Syndrome
What gene changes cause Epileptic Encephalopathy, Early Infantile?
Changes in the following genes are associated with causing the syndrome: ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, KCNQ2, ARHGEF9, PCDH19, PNKP, SCN2A, PLCB1, SCN8A, ST3GAL3, TBC1D24, BRAT1. Although this list is growing all the time, with 94 genes currently identified as responsible for causing the syndrome.
Brain malformations, or damage can also cause the syndrome.
What are the main symptoms of Epileptic Encephalopathy, Early Infantile?
The main symptom of the syndrome is seizures. The seizures come in many different types, but generally those associated with the syndrome tend to happen just after an affected individual has woken up, and they force bending at the waist and neck, then stretching to the arms and legs. They can last for a few seconds, or in some cases a few minutes. Some individuals are affected by more than a hundred in a day. Generally their severity and frequency worsens with age, and some individuals also develop epilepsy and related conditions.As the seizures worsen, so too do the intellectual disability and motor issues also associated with the syndrome. The spasms associated with the syndrome do not respond to anti-seizure medicine.
The life expectancy for someone with the syndrome is not high. Those who survive the first two years of life, tend to have severe cognitive and physical disabilities.
Possible clinical traits/features:
Intellectual disability, Psychosis, Generalized non-motor (absence) seizure, Aggressive behavior, Atonic seizure, X-linked inheritance, Infantile onset, Status epilepticus, Global developmental delay, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure
How does someone get tested for Epileptic Encephalopathy, Early Infantile?
The initial testing for Epileptic Encephalopathy, Early Infantile can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
Medical information on Epileptic Encephalopathy, Early Infantile
This entry refers to a small number of families in which there has been a clustering of generalized seizures, predominantly affecting females. In the family described by Juberg and Hellman (1971), and subsequently reinvestigated by Fabisiak and Erickson (1990), five generations of females were affected. It should be noted that only a proportion of the patients were mentally handicapped and no other neurological signs were noted. An interpretation of the genetic mechanism is difficult. X-linked dominant inheritance is possible, but other explanations are as likely.
Ryan et al., (1997) mapped the gene to Xq22. They provided a number of explanations for the fact that only females are affected including a functional homologue of the disease locus on the Y chromosome, metabolic interference, disturbance in the X-inactivation process and the possibility that the gene encodes a protein that is not required for development of the male brain.
Linkage of this condition to Xq22 is suggested (Ryan et al., 1997). The condition is also transmitted by totally unaffected males. Another four families were reported by Scheffer et al., (2008). Again there was transmission through unaffected males. Onset was in infancy (6-36 months), often with febrile convulsions. Multiple seizure types occurred and seizures ceased at a mean age of 12 years. Mutations in protocadherin 19, have now been shown to be causative (Dibbens et al., 2008). Two unrelated families with mutations, reported by Dibbens et al., (2011), had sisters and half-sisters affected. In both cases, parental mosaicism was found.
The clinical picture is reminiscent of Dravet syndrome - see elsewhere - and the whole condition is well reviewed by Depienne and LeGuern (2012).
Kurian et al. (2017) described five affected females with PCDH19 mutations. Age of onset was between 4.5 and 15 months. Clinical characteristics included normal intelligence or mild intellectual disability and pharmacoresistant seizures with clusters. Seizures types included focal seizures with secondary generalization, atypical absences, generalized tonic-clonic and atonic seizures and focal seizures. Radiological evidence of cortical dysplasia was obsrved in all cases.
Liu et al. (2018) reported five individuals with de novo mosaic PCDH19 genotype, including one female and two male patients, and two asymptomatic gonadal mosaic fathers. Both male patients had intellectual disability, aggression and were described as restless, one of them had autism spectrum disorder as well. The female patient had normal development. All three patients had normal brain MRIs.
* This information is courtesy of the L M D.
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