Genomes and Genes
Summary: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic.
- Wolff M, Casse Perrot C, Dravet C. Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia. 2006;47 Suppl 2:45-8 pubmed..The cognitive and behavioral impairment tended to correlate with the frequency of convulsive seizures (>5 per month). The data suggest that SMEI can be considered as a prototype of an epileptic encephalopathy. ..
- Claes L, Del Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. 2001;68:1327-32 pubmed..All mutations are de novo mutations and were not observed in 184 control chromosomes. ..
- Vischer V, Maeder Ingvar M, Picard F, Dubois C, Davidoff V, Deonna T, et al. Epileptic falls and gait disturbance in two young children with a sharp wave focus at the vertex: a variant of benign partial epilepsy of childhood?. Eur J Paediatr Neurol. 2002;6:169-78 pubmed..Although epileptic falls are most often a feature of severe epilepsies of childhood, we think that these two patients present a variant of benign partial epilepsy of childhood. ..
- Rhodes T, Lossin C, Vanoye C, Wang D, George A. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci U S A. 2004;101:11147-52 pubmed..Our results further indicate that a complex relationship exists between phenotype and aberrant sodium channel function in these inherited epilepsies. ..
- Stoner T, Braff S, Khoshyomn S. High signal in subarachnoid spaces on FLAIR MR images in an adult with propofol sedation. Neurology. 2002;59:292 pubmed
- Guerrini R, Parmeggiani L, Marini C, Brovedani P, Bonanni P. Autosomal dominant cortical myoclonus and epilepsy (ADCME) with linkage to chromosome 2p11.1-q12.2. Adv Neurol. 2005;95:273-9 pubmed
- van Rootselaar A, Aronica E, Jansen Steur E, Rozemuller Kwakkel J, de Vos R, Tijssen M. Familial cortical tremor with epilepsy and cerebellar pathological findings. Mov Disord. 2004;19:213-7 pubmed..Pathological investigation showed cerebellar degeneration and somal sprouting and loss of dendritic tree in Purkinje cells. Striking similarities were found in diseases caused by channelopathies such as spinocerebellar ataxia subtype 6. ..
- Backx L, Ceulemans B, Vermeesch J, Devriendt K, Van Esch H. Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4. Eur J Hum Genet. 2009;17:378-82 pubmed publisher..3), disrupting the ErbB4 gene. This patient represents the first case of haploinsufficiency for one of the ErbB family members of tyrosine kinase receptors. ..
- Cross J. When is epileptic encephalopathy nonconvulsive status epilepticus?. Epilepsia. 2007;48 Suppl 8:42-3 pubmed
- Kotini A, Mavraki E, Anninos P, Piperidou H, Prassopoulos P. Magnetoencephalographic findings in two cases of juvenile myoclonus epilepsy. Brain Topogr. 2010;23:41-5 pubmed publisher..Implication of the cerebellum in JME, as suggested by MEG data in this study, is in accordance with previous reports employing functional MRI or cerebral blood flow evaluation in JME. ..
- Kearney J, Wiste A, Stephani U, Trudeau M, Siegel A, RamachandranNair R, et al. Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatr Neurol. 2006;34:116-20 pubmed..Review of the literature indicates that recurrent mutations account for 25% of SCN1A mutations in severe myoclonic epilepsy of infancy, including six sites of deamination at CpG dinucleotides. ..
- Manabe Y, Narai H, Warita H, Hayashi T, Shiro Y, Sakai K, et al. Benign adult familial myoclonic epilepsy (BAFME) with night blindness. Seizure. 2002;11:266-8 pubmed..3-q24.1, the causative gene has yet to be identified. The present familial case suggests that BAFME may also be a disease of the calcium channel that is present in the retina and the central nervous system (CNS). ..
- Fernandez Torre J, Otero B. 'Ictus emeticus in a prolonged frontotemporal seizure secondary to a brain tumour'. Dev Med Child Neurol. 2005;47:213-4 pubmed
- Koutroumanidis M, Aggelakis K, Panayiotopoulos C. Idiopathic epilepsy with generalized tonic-clonic seizures only versus idiopathic epilepsy with phantom absences and generalized tonic-clonic seizures: one or two syndromes?. Epilepsia. 2008;49:2050-62 pubmed publisher..They also appear to validate HBC as a simple, sensitive, and pragmatic method for the clinical identification of typical absences. ..
- Ceulemans B, Claes L, Lagae L. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr Neurol. 2004;30:236-43 pubmed
- Jansen A, Andermann E, Niel F, Creveaux I, Boespflug Tanguy O, Andermann F. Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy. Epilepsia. 2008;49:910-3 pubmed publisher..All major causes of progressive myoclonus epilepsy (PME) were excluded. Brain MRI showed extensive white matter involvement. Mutation analysis of the EIF2B5 gene revealed a homozygous c.338G>A (p.Arg113His) mutation. ..
- Regragui W, Gerdelat Mas A, Simonetta Moreau M. Cortical tremor (FCMTE: familial cortical myoclonic tremor with epilepsy). Neurophysiol Clin. 2006;36:345-9 pubmed..The similarities of this syndrome with the group of myoclonic epilepsy suggest an abnormality of a gene encoding ion channels. ..
- Kröll Seger J, Portilla P, Dulac O, Chiron C. Topiramate in the treatment of highly refractory patients with Dravet syndrome. Neuropediatrics. 2006;37:325-9 pubmed..Topiramate seems therefore to be helpful in Dravet syndrome, even in patients not satisfactorily controlled by stiripentol. Both drugs can be easily and safely associated. ..
- Bahi Buisson N, El Sabbagh S, Soufflet C, Escande F, Boddaert N, Valayannopoulos V, et al. Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase. Seizure. 2008;17:658-64 pubmed publisher..A direct effect of the GDH mutation, perhaps in combination with recurrent hypoglycemia and chronic hyperammonemia could provide a pathophysiological explanation for the epilepsy observed in this syndrome and these are discussed. ..
- Siegler Z, Neuwirth M, Hegyi M, Paraicz E, Pálmafy B, Tegzes A, et al. [Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases]. Ideggyogy Sz. 2008;61:402-8 pubmed..The presence of an SCN1A mutation supports the diagnosis. We propose the availability of molecular diagnostics and stiripentol therapy for SMEI children in Hungary ..
- Eue S, Grumbt M, Muller M, Schulze A. Two years of experience in the treatment of status epilepticus with intravenous levetiracetam. Epilepsy Behav. 2009;15:467-9 pubmed publisher..Further investigations are needed to confirm this assumption as the patient numbers are quite low. ..
- Bergmann C, Zerres K, Senderek J, Rudnik Schoneborn S, Eggermann T, Hausler M, et al. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Brain. 2003;126:1537-44 pubmed..Our findings, however, indicate that OPHN1 mutations result in a recognizable syndrome. In addition, identification of OPHN1 as a further gene associated with epileptic seizures will help to unravel aetiologic factors of epilepsy. ..
- Guzzetta F, Battaglia D, Lettori D, Deodato F, Sani E, Randò T, et al. Epileptic negative myoclonus in a newborn with hemimegalencephaly. Epilepsia. 2002;43:1106-9 pubmed..The short transient impairment of motor function observed in the newborn seems linked to the slow component of spike-wave discharge, but its mechanism is still not clear. ..
- Striano P, Zara F, Striano S. Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype. Acta Neurol Scand. 2005;111:211-7 pubmed..1-q12. A third locus could also be involved. Further studies should better clarify the electrophysiological features of this condition and identify the underlying molecular defects. ..
- Caraballo R, Fejerman N. Dravet syndrome: a study of 53 patients. Epilepsy Res. 2006;70 Suppl 1:S231-8 pubmed..Cognitive development is poor in all patients. Treatment with the KD should be considered early. A ion-channel disorder could explain the association between DS and paroxysmal diskinesias, as seen in one of our patients. ..
- Covanis A. Eyelid myoclonia and absence. Adv Neurol. 2005;95:185-96 pubmed
- Ferroir J, Corpechot C, Freudenreich A, Khalil A. [Metronidazole-related polyneuritis, convulsive seizures, and cerebellar syndrome. Contribution of MRI]. Rev Neurol (Paris). 2009;165:828-30 pubmed publisher..Neurological complications are possible when a treatment with metronidazole is prescribed for a long duration or at high dose. In our patient, the clinical abnormalities and MRI signs regressed a few months after treatment withdrawal. ..
- Kakinuma H, Fujiki T, Nakamura T, Takahashi H. Valproate hepatotoxicity in a 5-year-old boy with cerebral palsy due to neonatal asphyxia. Pediatr Int. 2006;48:631-3 pubmed
- Sano A, Mikami M, Nakamura M, Ueno S, Tanabe H, Kaneko S. Positional candidate approach for the gene responsible for benign adult familial myoclonic epilepsy. Epilepsia. 2002;43 Suppl 9:26-31 pubmed..2 and 3.5 kb. We analyzed the genomic sequence of the patients with BAFME and found no change in the pathogenesis of the disease. ..
- Markand O. Lennox-Gastaut syndrome (childhood epileptic encephalopathy). J Clin Neurophysiol. 2003;20:426-41 pubmed..There are varying degrees of slowing of the background. Sleep discloses paroxysms of generalized fast (10 to 25 Hz) rhythmic activity. ..
- Morita S, Miwa H, Kondo T. [A case of the familial essential myoclonus and epilepsy presenting behavioral arrest]. No To Shinkei. 2003;55:345-8 pubmed..From symptomatological as well as genetic aspects, FEME has been suggested to be heterogeneous. We propose that this unique akinetorigid attack might be a new clinical phenotype of FEME. ..
- Harkin L, Bowser D, Dibbens L, Singh R, Phillips F, Wallace R, et al. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet. 2002;70:530-6 pubmed..This finding reinforces the involvement of GABA(A) receptors in epilepsy. ..
- De Simone R, Daquin G, Genton P. Senile myoclonic epilepsy in Down syndrome: a video and EEG presentation of two cases. Epileptic Disord. 2006;8:223-7 pubmed..It is clearly associated with an Alzheimer-type dementia, and may also occur in non-DS patients with Alzheimer's disease: hence the possible denomination of "senile myoclonic epilepsy". [Published with video sequences]. ..
- Joshi C, Patrick J. Eyelid myoclonia with absences: routine EEG is sufficient to make a diagnosis. Seizure. 2007;16:254-60 pubmed..EMA is not uncommon; diagnosis can be made with good clinical history and routine EEG. As developmental delay is a common association with EMA in this study, early identification and treatment are important. ..
- Weber P, Tillmann B, Minet J, Blauenstein U. [Myoclonic-astatic epilepsy in early childhood: review of clinical signs, EEG features, etiology, and therapy]. Klin Padiatr. 2002;214:279-84 pubmed..New molecular results are described as possible reasons of the individual course of this disease. The topical options regarding therapy are prescribed. ..
- Martinez Bermejo A, Lopez Martin V, Arcas J, Tendero A, Roche Herrero M, Merino M. [Severe myoclonic epilepsy in infancy. Clinical and paraclinical aspects]. Rev Neurol. 2003;37:55-9 pubmed..It will also allow studies to be conducted on the phenotype genotype correlation of the disease. ..
- Gentile S. Lamotrigine in pregnancy and lactation. Arch Womens Ment Health. 2005;8:57-8 pubmed
- Bahi Buisson N, Mention K, Léger P, Valayanopoulos V, Nabbout R, Kaminska A, et al. [Neonatal epilepsy and inborn errors of metabolism]. Arch Pediatr. 2006;13:284-92 pubmed..The aim of this article is to help clinicians in reviewing potential metabolic diagnoses and approaching metabolic evaluations. ..
- Molteni E, Perego P, Zanotta N, Reni G. Entropy analysis on EEG signal in a case study of focal myoclonus. Conf Proc IEEE Eng Med Biol Soc. 2008;2008:4724-7 pubmed publisher..This preliminary study confirmed the ability of entropic methods in discriminating myoclonic events. Indeed, near the myoclonic focus location both SampEn and LZ methods showed below average values. ..
- Korff C, Jallon P, Lascano A, Michel C, Seeck M, Haenggeli C. Is benign myoclonic epilepsy of infancy truly idiopathic and generalized?. Epileptic Disord. 2009;11:132-5 pubmed publisher..Published with video sequences]. ..
- Cho Y, Yi S, Motamedi G. Frontal lobe epilepsy may present as myoclonic seizures. Epilepsy Behav. 2010;17:561-4 pubmed publisher..Diffusion tensor imaging (DTI) showed defects in fasciculi in the same area. These findings suggest that frontal lobe epilepsy should be considered in some patients with myoclonic seizures. ..
- Hua Q, Wei P, Wei S. [Clinical observation and long-term follow up of benign myoclonus in early infancy]. Zhonghua Er Ke Za Zhi. 2004;42:468-9 pubmed
- Franceschetti S, Sancini G, Buzzi A, Zucchini S, Paradiso B, Magnaghi G, et al. A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression. Neurobiol Dis. 2007;25:675-85 pubmed..Furthermore, a greater degree of neuronal damage was observed in CSTB-deficient than in WT mice after seizures of identical grade, indicating increased susceptibility to seizure-induced cell death. ..
- Sugawara T, Tsurubuchi Y, Fujiwara T, Mazaki Miyazaki E, Nagata K, Montal M, et al. Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res. 2003;54:201-7 pubmed..The mutant channels showed remarkably attenuated or barely detectable inward sodium currents. Our findings indicate that SMEI mutations lead to loss-of-function and may contribute to the development of SMEI phenotypes. ..
- Gokben S, Berdeli A, Serdaroglu G. An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy. Neuropediatrics. 2009;40:82-4 pubmed publisher..Inherited truncating mutations are very rare. Here a patient with a new nonsense mutation (c.4933 C>T; p.R1645X) of the gene is described. This mutation was inherited from the father who had only febrile seizures during childhood. ..
- Noachtar S, Andermann E, Meyvisch P, Andermann F, Gough W, Schiemann Delgado J. Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures. Neurology. 2008;70:607-16 pubmed publisher..These results suggest that levetiracetam is an effective and well-tolerated adjunctive treatment for patients with previously uncontrolled idiopathic generalized epilepsy with myoclonic seizures. ..
- Ishii A, Kang J, Schornak C, Hernandez C, Shen W, Watkins J, et al. A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. J Med Genet. 2017;54:202-211 pubmed publisher..This mutation has complex functional effects on GABAA receptors, including reduction of cell surface expression and attenuation of channel function, which would significantly perturb GABAergic inhibition in the brain. ..
- Bahi Buisson N, Roze E, Dionisi C, Escande F, Valayannopoulos V, Feillet F, et al. Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. Dev Med Child Neurol. 2008;50:945-9 pubmed publisher..Our data demonstrate that neurological disorders in HHS are more frequent than previously thought and might suggest that mutations in the GTP binding site of GDH could be associated with more frequent epilepsy...
- Winawer M, Marini C, Grinton B, Rabinowitz D, Berkovic S, Scheffer I, et al. Familial clustering of seizure types within the idiopathic generalized epilepsies. Neurology. 2005;65:523-8 pubmed
- Kaplan K, Nelson B. Pathologic quiz case: myoclonic epilepsy and cognitive decline in a 19-year-old man. Arch Pathol Lab Med. 2003;127:e231-2 pubmed