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PURPOSE: This study reports our center's initial experience with the use of low-frequency stimulation in provoking stimulation-induced seizures (SIS) in children with drug-resistant epilepsy undergoing stereo-EEG evaluations. METHODS: This retrospective study enrolled children aged 2 to 18 years with drug-resistant focal epilepsy who underwent stereo-EEG evaluation and extraoperative direct electrical cortical stimulation to elicit seizures. The low-frequency stimulation parameters consisted of biphasic square waveforms at frequency of 1 Hz, pulse width 1 millisecond, current 1 to 3 mA, and train duration of 20 seconds. Various epilepsy-related, imaging, neurophysiology, and surgery-related variables were collected and summarized. RESULTS: Fourteen children (mean age 13 years; 57.1% girls) were included, 10 of whom had unilateral stereo-EEG coverage. Cortical stimulation for provoking seizures was performed after a median of 5 days after electrode implantation. The median number of electrode-contacts stimulated per patient was 42. Four patients (28.6%) experienced habitual SIS (all extratemporal). The etiology in three patients was focal cortical dysplasia. Interictal high-frequency oscillations at electrode-contacts provoking SIS were observed in three cases (75%). Two of these individuals (50%) had class 1 International League Against Epilepsy seizure outcome at last follow-up, after the resection of the brain regions generating SIS. CONCLUSIONS: Low-frequency (1-Hz) stimulation could provoke habitual SIS in nearly one-fourth of children with focal epilepsy undergoing stereo-EEG monitoring. This study provides a limited pediatric experience with the low-frequency cortical stimulation and SIS.
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The 2017 classification of the epilepsies of International League Against Epilepsy (ILAE) defined three diagnostic levels, including seizure type, epilepsy type and epilepsy syndrome. Epilepsy syndromes have been recognized as distinct electroclinical entities well before the first ILAE classification of Epilepsies and Epilepsy Syndromes in 1985. A formally accepted classification of epilepsy syndromes was not available, and hence, the 2017-2021 Nosology and Definitions Task Force of ILAE was formulated. The ILAE position papers were published in 2022, which classified epilepsy syndromes into (1) syndromes with onset in neonates and infants (up to 2 years of age), (2) syndromes with onset in childhood, (3) syndromes that may begin at a variable age and (4) idiopathic generalized epilepsies. This classification recognized the concept of etiology-specific syndrome. These papers have addressed the specific clinical and laboratory features of epilepsy syndromes and specify the rationale for any significant changes in terminology or definition. This paper will review some pertinent changes and essential points relevant to pediatricians.
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Epilepsia Generalizada , Epilepsia , Síndromes Epilépticos , Recién Nacido , Humanos , Epilepsia/diagnóstico , Convulsiones/diagnóstico , PediatrasRESUMEN
OBJECTIVE: KCTD7-related progressive myoclonic epilepsy (PME) is a rare autosomal-recessive disorder. This study aimed to describe the clinical details and genetic variants in a large international cohort. METHODS: Families with molecularly confirmed diagnoses of KCTD7-related PME were identified through international collaboration. Furthermore, a systematic review was done to identify previously reported cases. Salient demographic, epilepsy, treatment, genetic testing, electroencephalographic (EEG), and imaging-related variables were collected and summarized. RESULTS: Forty-two patients (36 families) were included. The median age at first seizure was 14 months (interquartile range = 11.75-22.5). Myoclonic seizures were frequently the first seizure type noted (n = 18, 43.9%). EEG and brain magnetic resonance imaging findings were variable. Many patients exhibited delayed development with subsequent progressive regression (n = 16, 38.1%). Twenty-one cases with genetic testing available (55%) had previously reported variants in KCTD7, and 17 cases (45%) had novel variants in KCTD7 gene. Six patients died in the cohort (age range = 1.5-21 years). The systematic review identified 23 eligible studies and further identified 59 previously reported cases of KCTD7-related disorders from the literature. The phenotype for the majority of the reported cases was consistent with a PME (n = 52, 88%). Other reported phenotypes in the literature included opsoclonus myoclonus ataxia syndrome (n = 2), myoclonus dystonia (n = 2), and neuronal ceroid lipofuscinosis (n = 3). Eight published cases died over time (14%, age range = 3-18 years). SIGNIFICANCE: This study cohort and systematic review consolidated the phenotypic spectrum and natural history of KCTD7-related disorders. Early onset drug-resistant epilepsy, relentless neuroregression, and severe neurological sequalae were common. Better understanding of the natural history may help future clinical trials.
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Epilepsias Mioclónicas , Epilepsias Mioclónicas Progresivas , Síndrome de Unverricht-Lundborg , Adolescente , Niño , Preescolar , Humanos , Lactante , Adulto Joven , Electroencefalografía , Epilepsias Mioclónicas/genética , Epilepsias Mioclónicas Progresivas/genética , Canales de Potasio/genética , ConvulsionesRESUMEN
None.
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Epilepsia Refractaria , Epilepsias Parciales , Discapacidad Intelectual , Femenino , Humanos , Epilepsia Refractaria/tratamiento farmacológico , Epilepsias Parciales/complicaciones , Epilepsias Parciales/tratamiento farmacológico , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/genética , MetiltransferasasRESUMEN
PURPOSE: Hippocampal Sclerosis (HS) may co-exist with temporal or extratemporal lesions (dual pathology) in children and is usually ipsilateral to the radiological lesion. Here were report three cases with extensive hemispheric cortical malformation and drug resistant epilepsy who had persistent seizures after functional hemispherectomy (FH) and developed contralateral HS after the surgery. METHODS: This retrospective study enrolled children who underwent FH and developed contralateral HS after surgery. Their clinical, EEG, radiological and pathological data were reviewed and summarized. RESULTS: Ninety-five children underwent FH during the study period; Three cases (3.2%) were eligible. They all had unilateral extensive hemispheric cortical malformation who underwent FH between 3 and 5 months of age with no clinical, EEG or radiological suggestion for involvement of contralateral hemisphere prior to FH. All three patients had persisting seizures after FH. Contralateral HS was detected between 2.2 to 3.7 years after FH in all three cases. Two of the patients showed pathogenic variants in GATOR1 pathway genes. CONCLUSIONS: The genesis of contralateral HS in the reported patients remains unexplained. The presence and distribution of "second-hit" somatic mutations may play an important role in governing the seizure outcomes of epilepsy surgery in patients with apparently unilateral malformations of cortical development.
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Distonía , Trastornos Distónicos , Enfermedades Metabólicas , Humanos , Mutación , Trastornos Distónicos/genéticaRESUMEN
Purpose: To investigate whether hyperventilation (HV) for 5â minutes increases the diagnostic yield of electroencephalography (EEG) compared to 3â minutes HV and to determine whether performing HV for 5â minutes is feasible and safe in children. Methods: Data were evaluated from 579 children aged less than 18 years, referred to EEG for epilepsy evaluation. Occurrence of seizures, HV induced interictal epileptiform discharges precipitation and potentiation and adverse events if any were noted during the first 3â minutes and last 2â minutes of HV separately. Results: 398 children (68.7%) completed 5â minutes HV. Seizures were precipitated during the first 3â minutes of HV in 2 children, and during the last 2â minutes in one more child. Inter-ictal EEG abnormalities were precipitated in the first 3â minutes of HV in 31 children, and during the last 2â min in 4 more children. All 398 children completed HV during the last 2â minutes successfully and no adverse events occurred during the last 2â minutes of HV. Conclusion: 33.33% of seizures and 11.5% of inter-ictal EEG abnormalities triggered by HV occurred during the last 2â min of HV. This finding supports the utility of prolonged hyperventilation for 5â minutes. Prolonged HV for 5â minutes increases the diagnostic yield of EEG in paediatric population and it is safe and feasible.
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Electroencefalografía , Hiperventilación , Humanos , Niño , Convulsiones/diagnósticoRESUMEN
Carbonic anhydrase VA (CA-VA) deficiency is a rare autosomal-recessive inborn error of metabolism. It is imperative to consider CA-VA deficiency as a differential diagnosis in neonates with hyperammonemia not attributed to defects in urea cycle enzymes, organic acid disorders, hypoglycemia, and primary hyperlactatemia. The case described in this report had a metabolic crisis on day three of life with biochemical abnormalities demonstrating hypoglycemia, elevated ammonia, and lactate. At eight months, he presented with developmental delay and infantile spasms. Considering the history of consanguinity and infantile spasms, clinical exome sequencing was done, which revealed a pathogenic novel mutation suggestive of CA-VA deficiency. On review of the literature, we found that about 21 affected individuals have been reported to date. Unprovoked seizures or epilepsy have not yet been described in CA-VA deficiency. This report expands the phenotypic spectrum of neurological manifestations of CA-VA deficiency and adds to the existing number of cases in the reported literature.
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OBJECTIVE: To study the association between serum magnesium level and migraine in children. METHODS: This cross-sectional study enrolled children aged 5-18 years diagnosed with migraine, and age- and sex-matched controls without a headache disorder. International Classification of Headache Disorders 3 (ICHD-3) was used for the diagnosis of migraine. The association between serum magnesium level and migraine headache was analyzed. RESULTS: A total of 35 children with migraine were enrolled with 35 control subjects. The median (IQR) serum magnesium levels were comparable among children with migraine and controls [2.0 (2.0,2.1) vs 2.2 (1.9, 2.2) mg/dL; P=0.23], respectively. In adolescent sub-group, median (IQR) serum magnesium levels were significantly low among the children with migraine as compared to those without migraine [2.0 (1.9, 2.1) vs 2.2 (2.0, 2.2 mg/dL); P<0.045]. CONCLUSION: We found a statistically significant association between low serum magnesium levels and the occurrence of migraine in adolescents, which may have treatment implications.
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Magnesio , Trastornos Migrañosos , Adolescente , Niño , Estudios Transversales , Humanos , Trastornos Migrañosos/diagnóstico , Trastornos Migrañosos/epidemiologíaAsunto(s)
Cefalea , Trastornos Migrañosos , Adolescente , Niño , Cefalea/diagnóstico , Cefalea/epidemiología , Cefalea/etiología , HumanosRESUMEN
GRIN2B is a gene encoding GluN2B subunit under the family of N-methyl D-aspartate (NMDA) receptors, which is responsible for neurogenesis and cognitive processes. The role of NMDA receptor antagonists like memantine is being explored for therapies in drug-resistant epilepsies. Here, we present a case of a 20-month-old boy who presented with refractory epileptic spasms. Upon failure of multiple antiepileptic drugs, he was started on oral memantine. There was a significant reduction in average seizure episodes by â¼80%. The use of memantine along with antiepileptic drug polytherapy has proved to be beneficial in our case. Our experience with memantine and favorable outcome opens up the scope of more research into the use of NMDA receptor antagonist as a drug option for refractory epilepsies with proven genetic mutation and hence improves the overall neurodevelopmental outcome and survival chance.
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Memantina , Espasmos Infantiles , Niño , Humanos , Lactante , Masculino , Memantina/uso terapéutico , Mutación , Receptores de N-Metil-D-Aspartato/genética , Convulsiones/tratamiento farmacológico , Espasmos Infantiles/tratamiento farmacológico , Espasmos Infantiles/genéticaRESUMEN
Pyridoxine-dependent epilepsy is a treatable cause of epilepsy, which is very well known. It is most commonly caused by mutations in ALDH7A1 and PNPO genes. A 5-month-old infant presented with refractory seizures. Magnetic resonance imaging (MRI) brain was normal. Clinical exome sequencing showed a novel mutation in PROSC gene. He responded very well to pyridoxine and has been seizure free since the beginning of the treatment. PROSC gene mutations have been recently described as a cause for pyridoxine-dependent epilepsy. Here, we describe a first case report of PROSC mutation from India with a rare genetic variant presenting as pyridoxine-dependent epilepsy.