Lista de obras - Maurizio Elia - Dominio Público Uruguay

"Postural first" principle when balance is challenged in elderly people.

artículo científico publicado en 2013

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases

artículo científico publicado en 2006

A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy

artículo científico publicado en 2011

A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome

artículo científico publicado en 1995

A genetic variant that disrupts MET transcription is associated with autism

artículo científico publicado en 2006

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

artículo científico publicado en 2014

A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.

artículo científico publicado en 2004

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

artículo científico publicado en 2014

A t(4;9)(q34;p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism

artículo científico publicado en 2005

ALS dysphagia pathophysiology: differential botulinum toxin response

scientific article published on 23 January 2013

Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin

scientific article published on 03 November 2011

Age, sex and mental retardation related changes of brainstem auditory evoked potentials in Down's syndrome

artículo científico publicado en 1995

Age-and height-dependent changes of amplitude and latency of somatosensory evoked potentials in children and young adults with Down's syndrome

artículo científico publicado en 1996

Age-related changes of cortical excitability in subjects with sleep-enhanced centrotemporal spikes: a somatosensory evoked potential study

artículo científico publicado en 2000

Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1.

artículo científico publicado en 2008

An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.

artículo científico publicado en 2012

An educational campaign about epilepsy among Italian primary school teachers. 2. The results of a focused training program.

artículo científico publicado en 2014

An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy

artículo científico publicado en 2007

Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy.

artículo científico publicado en 2008

Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders.

artículo científico publicado en 2008

Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism

artículo científico publicado en 2004

Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy

artículo científico publicado en 2011

Association study of autistic disorder and chromosome 16p ⬇️

artículo científico publicado el 1 de junio de 2003

Associations between folate, vitamin B12, homocysteine and pathologies related to aging: the need to consider complex nutrient-nutrient and gene-nutrient interactions and the functional and socio-economic determinants in population-based studies

artículo científico publicado en 2007

Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes

artículo científico publicado en 2006

Autosomal dominant lateral temporal epilepsy: Absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins

artículo científico publicado en 2008

BIT-mapped somatosensory evoked potentials in the fragile X syndrome

article

Biological determinants of postural disorders in elderly women.

artículo científico publicado en 2012

Bit-mapped somatosensory evoked potentials in Down's syndrome individuals

article

Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

artículo científico publicado en 2007

Brainstem auditory evoked potentials in tuberous sclerosis

artículo científico publicado en 1993

CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

artículo científico publicado en 2008

Cannabidiol and epilepsy: Rationale and therapeutic potential

artículo científico publicado en 2016

Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1.

artículo científico publicado en 2007

Chaotic behavior of EEG slow-wave activity during sleep

artículo científico publicado en 1996

Clinical dissection of early onset absence epilepsy in children and prognostic implications

artículo científico publicado en 2013

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

artículo científico publicado en 2011

Clinical, morphological, and biochemical correlates of head circumference in autism.

artículo científico publicado en 2007

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex

artículo científico publicado en 2010

Correction to: Adjunctive Brivaracetam in Focal Epilepsy: Real‑World Evidence from the BRIVAracetam add‑on First Italian netwoRk Study (BRIVAFIRST)

artículo científico publicado en 2021

Correlation dimension of EEG slow-wave activity during sleep in children and young adults

artículo científico publicado en 1998

Cyclic alternating pattern and spectral analysis of heart rate variability during normal sleep.

artículo científico publicado en 2000

Different EEG frequency band synchronization during nocturnal frontal lobe seizures.

artículo científico publicado en 2004

Do neurologists agree in diagnosing drug resistance in adults with focal epilepsy?

scientific article published on 25 December 2018

Does a peculiar EEG pattern exist also for FRAXE mental retardation?

artículo científico publicado en 2000

Does antiepileptic therapy affect immune response? ⬇️

artículo científico publicado el 1 de abril de 1998

Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution.

artículo científico publicado en 2012

Effects of repetitive transcranial magnetic stimulation in performing eye-hand integration tasks: four preliminary studies with children showing low-functioning autism

artículo científico publicado en 2013

Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome.

artículo científico publicado en 2013

Electroclinical findings in four patients with karyotype 47,XYY.

artículo científico publicado en 2010

Epilepsy and EEG findings in males with fragile X syndrome.

artículo científico publicado en 1999

Epilepsy and fragile X syndrome: a follow-up study

artículo científico publicado en 1991

Epilepsy in ring 14 chromosome syndrome.

artículo científico publicado en 2012

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities

artículo científico publicado en 2016

Epileptic seizures and fra(X) syndrome

artículo científico publicado en 1991

Erratum to: Polysomnographic findings in Rett syndrome: a case–control study

scholarly article published in Sleep and Breathing

Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes

artículo científico publicado en 2007

Evoked spikes and giant somatosensory evoked potentials in a patient with fragile-X syndrome

artículo científico publicado en 1994

Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects: A Strobe Compliant Article

artículo científico publicado en 2015

Expression of multidrug resistance type 1 gene (MDR1) P-glycoprotein in intractable epilepsy with different aetiologies: a double-labelling and electron microscopy study

artículo científico publicado en 2006

Eyelid myoclonia with absences in three subjects with mental retardation

artículo científico publicado en 2000

Eyelid myoclonia with absences: Electroclinical features and prognostic factors

artículo científico publicado en 2019

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

From Cannabis to Cannabidiol to Treat Epilepsy, Where Are We?

artículo científico publicado en 2016

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

artículo científico publicado en 2009

Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series

scientific article published on 15 August 2014

Giant somatosensory evoked potentials and pathophysiology of hyperekplexia. Neurophysiological study of one patient

artículo científico publicado en 1994

Growth hormone deficit in autism.

artículo científico publicado en 1993

HOXA1 gene variants influence head growth rates in humans

artículo científico publicado en 2007

Heart rate variability and apnea during sleep in Down's syndrome

artículo científico publicado en 1998

Heart rate variability during sleep in children with partial epilepsy

artículo científico publicado en 2002

Helicobacter pylori serologic status has no influence on the association between fucosyltransferase 2 polymorphism (FUT2 461 G->A) and vitamin B-12 in Europe and West Africa

artículo científico publicado en 2012

Homocysteine is a determinant of ApoA-I and both are associated with ankle brachial index, in an ambulatory elderly population

artículo científico publicado en 2010

Homocysteine predicts increased NT-pro-BNP through impaired fatty acid oxidation

artículo científico publicado en 2012

Hypersensitivity to aromatic anticonvulsants: in vivo and in vitro cross-reactivity studies.

artículo científico publicado en 2006

Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression

artículo científico publicado en 2009

Isolated monolateral neurosensory hearing loss as a rare sign of neuroborreliosis.

artículo científico publicado en 2004

Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study

artículo científico publicado en 2007

Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients

artículo científico publicado en 2003

Lacosamide in pediatric and adult patients: comparison of efficacy and safety.

artículo científico publicado en 2013

Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua

artículo científico publicado en 1996

Lennox-Gastaut syndrome with late-onset and prominent reflex seizures in trisomy 21 patients

artículo científico publicado en 2009

Long-term cognitive and behavioral therapies, combined with augmentative communication, are related to uncinate fasciculus integrity in autism

artículo científico publicado en 2012

Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.

artículo científico publicado en 2013

Methodology of photic stimulation revisited: updated European algorithm for visual stimulation in the EEG laboratory.

artículo científico publicado en 2011

Mild generalized epilepsy and developmental disorder associated with large inv dup(15).

artículo científico publicado en 2002

Modulation of the interictal epileptiform EEG activity during sleep: from oscillations to complex dynamics

artículo científico publicado en 1991

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

artículo científico publicado en 2016

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

artículo científico publicado en 2007

Mutations in NHLRC1 cause progressive myoclonus epilepsy

artículo científico publicado en 2003

Myoclonic absence-like seizures and chromosome abnormality syndromes

artículo científico publicado en 1998

Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases.

artículo científico publicado en 2006

Neurofibromatosis type 1 and infantile spasms

artículo científico publicado en 2008

Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy

artículo científico publicado en 2024

No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy

artículo científico publicado en 2003

Non-linear EEG measures during sleep: effects of the different sleep stages and cyclic alternating pattern

artículo científico publicado en 2002

Nonlinear EEG analysis during sleep in premature and full-term newborns

artículo científico publicado en 2003

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

artículo científico publicado en 2010

Paraoxonase gene variants are associated with autism in North America, but not in Italy: possible regional specificity in gene-environment interactions.

artículo científico publicado en 2005

Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features

artículo científico publicado en 2007

Polysomnographic abnormalities in patients with vascular cognitive impairment-no dementia

artículo científico publicado en 2013

Polysomnographic assessment of sleep disturbances in children with developmental disabilities and seizures

artículo científico publicado en 2010

Polysomnographic findings in Rett syndrome: a case-control study.

artículo científico publicado en 2012

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

artículo científico publicado en 2009

Principal pathogenetic components and biological endophenotypes in autism spectrum disorders

artículo científico publicado en 2010

Proposal of an algorithm for diagnosis and treatment of neonatal seizures in developing countries

artículo científico publicado en 2007

Reflex seizures in a patient with Angelman syndrome and trisomy 21.

artículo científico publicado en 2016

Relationship between Delta, Sigma, Beta, and Gamma EEG bands at REM sleep onset and REM sleep end.

artículo científico publicado en 2001

Risk factors for unprovoked epileptic seizures in multiple sclerosis: a systematic review and meta-analysis

artículo científico publicado en 2017

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

artículo científico publicado en 2009

Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study

artículo científico publicado en 1996

Scalp topographic mapping of middle-latency somatosensory evoked potentials in normal aging and dementia

scientific article published on 01 January 1996

Schimmelpenning syndrome: a kind of craniofacial epidermal nevus associated with cerebral and ocular MR imaging abnormalities.

artículo científico publicado en 2010

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

artículo científico publicado en 2006

Seizure aggravation caused by antiepileptic drugs in a patient with muscle–eye–brain disease

artículo científico publicado en 2010

Seizures and EEG pattern in the 22q13.3 deletion syndrome: clinical report of six Italian cases

artículo científico publicado en 2014

Seizures and epileptiform EEG abnormalities in FRAXE syndrome

artículo científico publicado en 2001

Seizures in Klinefelter's syndrome

artículo científico publicado en 1998

Seizures in Klinefelter's syndrome: a clinical and EEG study of five patients

artículo científico publicado en 1995

Self-injury in people with intellectual disability and epilepsy: a matched controlled study.

artículo científico publicado en 2012

Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene

article

Sleep alterations in children with refractory epileptic encephalopathies: a polysomnographic study

artículo científico publicado en 2014

Sleep breathing and periodic leg movement pattern in Angelman Syndrome: a polysomnographic study

artículo científico publicado en 2005

Sleep disturbances in Angelman syndrome: a questionnaire study

artículo científico publicado en 2004

Sleep in children with autistic spectrum disorder: a questionnaire and polysomnographic study

artículo científico publicado en 2007

Sleep in subjects with autistic disorder: a neurophysiological and psychological study.

artículo científico publicado en 2000

Sleep phenotypes of intellectual disability: a polysomnographic evaluation in subjects with Down syndrome and Fragile-X syndrome

artículo científico publicado en 2008

Sleep polygraphy in Angelman syndrome

artículo científico publicado en 2004

Somatosensory evoked potentials and hyperekplexia outcome

scientific article published on 01 January 1995

Special education versus inclusive education: the role of the TEACCH program.

artículo científico publicado en 2009

Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families

artículo científico publicado en 2005

Sulphation deficit in "low-functioning" autistic children: a pilot study

artículo científico publicado en 1999

Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics

artículo científico publicado en 2015

The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?

artículo científico publicado en 2013

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

artículo científico publicado en 2015

The mismatch negativity and the P3a components of the auditory event-related potentials in autistic low-functioning subjects

artículo científico publicado en 2003

The time course of high-frequency bands (15-45 Hz) in all-night spectral analysis of sleep EEG.

artículo científico publicado en 2000

Topiramate potentiates the antiseizure activity of some anticonvulsants in DBA/2 mice

scientific article published on 01 January 2000

Transient MRI abnormalities associated with partial status epilepticus: a case report

artículo científico publicado en 2001

Trisomy 12p and epilepsy with myoclonic absences

artículo científico publicado en 1998

Tuberous sclerosis underlying neonatal poliosis

artículo científico publicado en 2014

Two-loci ADA haplotypes in autistic disorder

artículo científico publicado en 2002

Unilateral Eye Blinking Arising From the Ictal Ipsilateral Occipital Area

artículo científico publicado en 2014

miRNAs Plasma Profiles in Vascular Dementia: Biomolecular Data and Biomedical Implications.

artículo científico publicado en 2016

Lista de obras de Maurizio Elia

"Postural first" principle when balance is challenged in elderly people.

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases

A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy

A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome

A genetic variant that disrupts MET transcription is associated with autism

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

A t(4;9)(q34;p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism

ALS dysphagia pathophysiology: differential botulinum toxin response

Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin

Age, sex and mental retardation related changes of brainstem auditory evoked potentials in Down's syndrome

Age-and height-dependent changes of amplitude and latency of somatosensory evoked potentials in children and young adults with Down's syndrome

Age-related changes of cortical excitability in subjects with sleep-enhanced centrotemporal spikes: a somatosensory evoked potential study

Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1.

An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.

An educational campaign about epilepsy among Italian primary school teachers. 2. The results of a focused training program.

An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy

Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy.

Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders.

Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism

Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy

Association study of autistic disorder and chromosome 16p ⬇️

Associations between folate, vitamin B12, homocysteine and pathologies related to aging: the need to consider complex nutrient-nutrient and gene-nutrient interactions and the functional and socio-economic determinants in population-based studies

Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes

Autosomal dominant lateral temporal epilepsy: Absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins

BIT-mapped somatosensory evoked potentials in the fragile X syndrome

Biological determinants of postural disorders in elderly women.

Bit-mapped somatosensory evoked potentials in Down's syndrome individuals

Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

Brainstem auditory evoked potentials in tuberous sclerosis

CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

Cannabidiol and epilepsy: Rationale and therapeutic potential

Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1.

Chaotic behavior of EEG slow-wave activity during sleep

Clinical dissection of early onset absence epilepsy in children and prognostic implications

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

Clinical, morphological, and biochemical correlates of head circumference in autism.

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex

Correction to: Adjunctive Brivaracetam in Focal Epilepsy: Real‑World Evidence from the BRIVAracetam add‑on First Italian netwoRk Study (BRIVAFIRST)

Correlation dimension of EEG slow-wave activity during sleep in children and young adults

Cyclic alternating pattern and spectral analysis of heart rate variability during normal sleep.

Different EEG frequency band synchronization during nocturnal frontal lobe seizures.

Do neurologists agree in diagnosing drug resistance in adults with focal epilepsy?

Does a peculiar EEG pattern exist also for FRAXE mental retardation?

Does antiepileptic therapy affect immune response? ⬇️

Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution.

Effects of repetitive transcranial magnetic stimulation in performing eye-hand integration tasks: four preliminary studies with children showing low-functioning autism

Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome.

Electroclinical findings in four patients with karyotype 47,XYY.

Epilepsy and EEG findings in males with fragile X syndrome.

Epilepsy and fragile X syndrome: a follow-up study

Epilepsy in ring 14 chromosome syndrome.

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities

Epileptic seizures and fra(X) syndrome

Erratum to: Polysomnographic findings in Rett syndrome: a case–control study

Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes

Evoked spikes and giant somatosensory evoked potentials in a patient with fragile-X syndrome

Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects: A Strobe Compliant Article

Expression of multidrug resistance type 1 gene (MDR1) P-glycoprotein in intractable epilepsy with different aetiologies: a double-labelling and electron microscopy study

Eyelid myoclonia with absences in three subjects with mental retardation

Eyelid myoclonia with absences: Electroclinical features and prognostic factors

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

From Cannabis to Cannabidiol to Treat Epilepsy, Where Are We?

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series

Giant somatosensory evoked potentials and pathophysiology of hyperekplexia. Neurophysiological study of one patient

Growth hormone deficit in autism.

HOXA1 gene variants influence head growth rates in humans

Heart rate variability and apnea during sleep in Down's syndrome

Heart rate variability during sleep in children with partial epilepsy

Helicobacter pylori serologic status has no influence on the association between fucosyltransferase 2 polymorphism (FUT2 461 G->A) and vitamin B-12 in Europe and West Africa

Homocysteine is a determinant of ApoA-I and both are associated with ankle brachial index, in an ambulatory elderly population

Homocysteine predicts increased NT-pro-BNP through impaired fatty acid oxidation

Hypersensitivity to aromatic anticonvulsants: in vivo and in vitro cross-reactivity studies.

Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression

Isolated monolateral neurosensory hearing loss as a rare sign of neuroborreliosis.

Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study