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Genetics of Childhood Epilepsy

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Genetics of Childhood Epilepsy Arch Dis Child 2000;82:121–125 121 Arch Dis Child: first published as 10.1136/adc.82.2.121 on 1 February 2000. Downloaded from CURRENT TOPIC Genetics of childhood epilepsy Robert Robinson, Mark Gardiner The epilepsies are a heterogeneous group of ronmental factors (or by the maternal disorders with many causes. However, a genetic inheritance pattern of mitochondrial aetiology may be present in up to 40% of DNA). patients, and this proportion is even higher in (3) Chromosomal disorders, in which a gross epilepsy of childhood onset.1 cytogenetic abnormality is present. The past decade has seen spectacular ad- In the idiopathic (primary) epilepsies, recur- vances in our understanding of the genetics of rent seizures occur in individuals who are oth- epilepsy at a molecular level, and several erwise neurologically and cognitively intact, comprehensive reviews are available.23 It is whereas in symptomatic epilepsies the seizures apparent that epilepsy genes fall into several are usually one component of a complex quite distinct classes including those in which neurological phenotype and a detectable ana- mutations cause abnormal brain development, tomical or metabolic abnormality is present. progressive neurodegeneration, disturbed en- Over 160 mendelian phenotypes include ergy metabolism, or dysfunction of ion channels. epilepsy as a component of the phenotype. The discovery that several idiopathic mendelian Although numerous, they are individually rare epilepsies are caused by mutations in ion and probably account for no more than 1% of channels, including voltage gated potassium and patients. Most are “symptomatic” and associ- sodium channels, is the most exciting advance ated with major central nervous system abnor- because this might provide a clue to the cause of malities or recognisable metabolic distur- the more common idiopathic familial epilepsies. bances. These include such major disorders as In this short review, the focus is on those tuberous sclerosis, fragile X syndrome, neurofi- mendelian childhood epilepsies for which bromatosis, Angelman syndrome, and the so genes have recently been identified, and called progressive myoclonic epilepsies. How- non-mendelian epilepsies for which mapping ever, there are a small but important number of data are available. “idiopathic” mendelian epilepsies, such as http://adc.bmj.com/ benign familial neonatal convulsions and be- Classification of genetic epilepsies nign familial infantile convulsions, autosomal It is helpful to categorise genetic epilepsies dominant nocturnal frontal lobe epilepsy, and according to the mechanism of inheritance generalised epilepsy with febrile seizures plus. involved and according to whether they are The common familial epilepsies tend to dis- idiopathic (primary) or symptomatic. play “complex” inheritance patterns. They Three major groups can be recognised include well characterised entities such as on September 27, 2021 by guest. Protected copyright. according to the mechanism of inheritance: childhood absence epilepsy and juvenile myo- (1) Mendelian epilepsies, in which a single clonic epilepsy. major locus accounts for segregation of the disease trait in a family. Idiopathic epilepsies (table 1) (2) Non-mendelian or “complex” epilepsies, in MENDELIAN IDIOPATHIC EPILEPSIES which the pattern of familial clustering can Benign familial neonatal convulsions be accounted for by the interaction of First described in 1964, this autosomal domi- several susceptibility loci together with envi- nant idiopathic generalised epilepsy occurs in Table 1 Genes implicated in idiopathic epilepsies Department of Paediatrics, Royal Epilepsy syndrome Inheritance Gene location Gene References Free and University Mendelian inheritance College Medical Benign familial neonatal convulsions AD 20q (EBN1) KCNQ2 4, 5 School, University 8q24 (EBN2) KCNQ3 6, 7 College London, Rayne Benign familial infantile convulsions AD 19q Unknown 8 Institute, University Autosomal dominant nocturnal frontal lobe epilepsy AD 20q13.2 CHRNA4 9, 10, 11 Street, London Generalised epilepsy with febrile seizures plus AD 19q13 SCN1B 12 WC1E 6JJ, UK 2 Unknown 13 Non-mendelian inheritance R Robinson Juvenile myoclonic epilepsy Complex 15q14 ?CHRNA7 14 M Gardiner 6p (EJM1) Unknown 15, 16 Childhood absence epilepsy (and/or EEG trait) Complex 8q24 Unknown 17 Correspondence to: Juvenile absence epilepsy Complex ?21q22.1 ?GRIK1 18 Dr Robinson Benign epilepsy with centrotemporal spikes Complex 15q14 Unknown 19 email: robert.robinson@ ucl.ac.uk EEG, electroencephalogram. 122 Robinson, Gardiner otherwise well neonates, usually from the 2nd Generalised epilepsy with febrile seizures plus Arch Dis Child: first published as 10.1136/adc.82.2.121 on 1 February 2000. Downloaded from or 3rd day of life, usually remits by week 2–3, First described in 1997 in a large Australian and has a favourable prognosis for neurological family, “febrile seizures plus” refers to a child- and intellectual development. Benign familial hood onset of multiple febrile seizures with neonatal convulsions have been shown to be afebrile seizures and febrile seizures continuing genetically heterogeneous. The first suscepti- beyond 6 years of age.19A Other phenotypes bility locus, EBN1, was mapped in 1989 to include absences, myoclonic seizures, atonic chromosome 20q in a family of four genera- seizures, and myoclonic astatic epilepsy. In a tions with 19 aVected individuals.4 The gene, second pedigree with generalised epilepsy with KCNQ2, was subsequently identified by posi- febrile seizures plus, the gene was mapped to tional cloning and was found to show signifi- chromosome 19q13.12 The gene for the â1 cant homology to a voltage gated potassium subunit of the voltage gated sodium channel, channel gene, KCNQ1.5 Six KCNQ2 muta- SCN1B, also maps to this region. Mutational tions have subsequently been identified in analysis identified a C → G substitution in aVected family members. EBN2, the second SCN1B that segregated with the disease This locus for benign familial neonatal convulsions mutation results in reduced modulation of the identified in 1993, has been mapped to sodium channel function by the â1 subunit and chromosome 8q24 in a Mexican family of three possible neuronal hyperexcitability. Recently, a generations with 14 aVected members.6 After a new locus for generalised epilepsy with febrile seizures plus has been identified on chromo- search of the expressed sequence tag database 13 for homologues of KCNQ2, KCNQ3 was some 2q21-q33 in a large French family. identified and subsequently localised to the EBN2 crucial region.7 A missense mutation NON-MENDELIAN “COMPLEX” IDIOPATHIC (G → T) in KCNQ3 has been characterised in EPILEPSIES aVected members of the original EBN2 family. Juvenile myoclonic epilepsy With a large proportion of aVected individuals having a positive family history, this idiopathic Benign familial infantile convulsions generalised epilepsy has received much atten- Also an autosomal dominant idiopathic gener- tion as a candidate for linkage studies. alised epilepsy, this was described originally in However, it exemplifies the diYculties that an Italian family and has an onset of seizures arise when investigating a disease with complex between 3.5 and 12 months of age. In the inheritance and genetic heterogeneity. Evi- search for a gene, several candidate genes dence has emerged both for and against a locus (including EBN1) were first excluded by on chromosome 6p, EJM1.15 16 A candidate linkage analysis in five Italian families. The gene approach in 34 European families with gene for benign familial infantile convulsions juvenile myoclonic epilepsy found evidence of was subsequently mapped to chromosome linkage in the CHRNA7 region on chromo- 19q.8 some 15q14.14 CHRNA7 encodes the á7 sub- unit of the neuronal nicotinic acetylcholine http://adc.bmj.com/ receptor and mutational analysis is currently Autosomal dominant nocturnal frontal lobe under way. epilepsy With a typical childhood onset of nocturnal Febrile convulsions motor seizures preceded by an aura, this At least 10% of patients have a positive family syndrome is often misdiagnosed as night history of febrile convulsions or other epilep- terrors. The familial tendency is easy to miss sies. Segregation analysis has suggested both because there is a pronounced variation in multigenic and single major locus models. on September 27, 2021 by guest. Protected copyright. severity among family members and the Linkage heterogeneity has been established, penetrance is approximately 70%. A large with evidence of linkage to both chromosome pedigree in southern Australia including 27 8q13–21 and chromosome 19p13.3.20 21 The aVected individuals over six generations syndrome of generalised epilepsy with febrile showed linkage to 20q13.2.9 The gene for the seizures plus has already been discussed. á4 subunit of the neuronal nicotinic acetylcho- line receptor (CHRNA4) was known to map to Childhood absence epilepsy the same chromosomal region, and also to be Childhood absence epilepsy is a syndrome in expressed in the frontal cortex. As an excellent which absence seizures (of any type except positional candidate gene, mutational analysis myoclonic absences) occur with an onset was undertaken, and a DNA sequence variant between 2 and 12 years of age and a typical in CHRNA4 was found that co-segregated electroencephalogram (EEG) showing bilat- with the disease in the Australian family.10 The eral, synchronous, symmetrical discharges of mutation converts a serine to phenylalanine in 2.5–4 Hz
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