Pub Date : 2016-11-12DOI: 10.4172/2472-0895.1000E114
K. Hung
Epilepsy is increasingly recognized as an important association with Attention Deficit/Hyperactivity Disorder (ADHD) in children. Previous studies reported the seizure occurrence in children with ADHD as 2~7% Epilepsy in children with ADHD appears to be earlier in age onset and more difficult in seizure control than those without. The genetic and clinical information might refer to a common neurobiological basis for epilepsy and ADHD.
{"title":"Epilepsy in Children with ADHD","authors":"K. Hung","doi":"10.4172/2472-0895.1000E114","DOIUrl":"https://doi.org/10.4172/2472-0895.1000E114","url":null,"abstract":"Epilepsy is increasingly recognized as an important association with Attention Deficit/Hyperactivity Disorder (ADHD) in children. Previous studies reported the seizure occurrence in children with ADHD as 2~7% Epilepsy in children with ADHD appears to be earlier in age onset and more difficult in seizure control than those without. The genetic and clinical information might refer to a common neurobiological basis for epilepsy and ADHD.","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"2016 1","pages":"1-1"},"PeriodicalIF":0.0,"publicationDate":"2016-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70317466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-10-26DOI: 10.4172/2472-0895.1000E113
J. Xiang, K. Leiken, C. Wu, X. Wang, Y. Fan, L. Qi, H. Qiao
Xiang J1* , Leiken K1, Wu C2, Wang X2, Fan Y3, Qi L4 and Qiao H4 1MEG Center, Division of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA 2Department of Neurology, Nanjing Brain Hospital, Nanjing, People’s Republic China 3Department of Pediatric, Shengjing Hospital, Shenyang, People’s Republic China 4MEG Laboratory, Tiantan Hospital, Beijing, People’s Republic of China *Corresponding author: Xiang J, Division of Neurology, Cincinnati Children’s Hospital Medical Center 3333, Burnet Avenue, Cincinnati, OH, 45220, USA, Tel: 1-513-636-6303, Fax: 1-513-636-1888; E-mail: Jing.xiang@cchmc.org
Xiang J1*， Leiken K1, Wu C2, Wang X2, Fan Y3, Qi L4, Qiao H4美国俄亥俄州辛辛那提市辛辛那提儿童医院医学中心神经内科1MEG中心2中华人民共和国南京市脑科医院神经内科3中华人民共和国沈阳盛京医院儿科4中华人民共和国北京天坛医院meg实验室*通讯作者:Xiang J，美国俄亥俄州辛辛那提市伯内特大道3333号辛辛那提儿童医院医疗中心神经内科，电话:1-513-636-6303，传真:1-513-636-1888;电子邮件:Jing.xiang@cchmc.org
{"title":"High Frequency Neuromagnetic Signals: A New Biomarker for Localizing Epileptic Areas Running Title: High-Frequency Neuromagnetic Signals in Epilepsy","authors":"J. Xiang, K. Leiken, C. Wu, X. Wang, Y. Fan, L. Qi, H. Qiao","doi":"10.4172/2472-0895.1000E113","DOIUrl":"https://doi.org/10.4172/2472-0895.1000E113","url":null,"abstract":"Xiang J1* , Leiken K1, Wu C2, Wang X2, Fan Y3, Qi L4 and Qiao H4 1MEG Center, Division of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA 2Department of Neurology, Nanjing Brain Hospital, Nanjing, People’s Republic China 3Department of Pediatric, Shengjing Hospital, Shenyang, People’s Republic China 4MEG Laboratory, Tiantan Hospital, Beijing, People’s Republic of China *Corresponding author: Xiang J, Division of Neurology, Cincinnati Children’s Hospital Medical Center 3333, Burnet Avenue, Cincinnati, OH, 45220, USA, Tel: 1-513-636-6303, Fax: 1-513-636-1888; E-mail: Jing.xiang@cchmc.org","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"2016 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2016-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70317423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Patients with bilateral independent hippocampal refractory seizures, who show no evidence of lesion in the MRI, constitute a challenge for their treatment. The risk of severe retrograde amnesia and/or residual seizures is high when bilateral temporal lobectomy is performed. Several groups have reported electrical neuromodulation of the hippocampus as a reversible surgical alternative for mesial temporal lobe epilepsy seizures that are refractory to medical treatment. Methods: In the Epilepsy Clinic of the General Hospital we have had three patients with bilateral independent foci and non-lesional MRI. The present publication shows their long-term seizure status and their neuropsychological outcome. Stimulation parameters were 3.0 V amplitude, high frequency (130 Hz), 450 μs pulse width, one minute ON and 4 min OFF cyclic stimulation. Follow-up extended over 9 years. Results: Patients showed dramatic seizure reduction. In two patients in whom stimulation was stopped (due to battery depletion or skin erosion), seizure reduction persisted for months after stimulation stopped, but eventually seizures reappeared slowly. One patient has had uninterrupted stimulation and has been seizure free for nine years. The neuropsychological tests showed no functional decrease at the selected modulation parameters. Conclusion: Bilateral hippocampal stimulation is effective in seizure control in patients in whom ablative surgery is not recommended.
背景:双侧独立海马难治性癫痫患者，MRI未显示病变证据，对其治疗构成挑战。双侧颞叶切除术后发生严重逆行性遗忘和/或残余癫痫的风险很高。一些研究小组已经报道了海马体电神经调节作为一种可逆性的手术替代治疗药物治疗难治性内侧颞叶癫痫发作。方法:在总医院癫痫门诊，我们有3例双侧独立病灶和非病变MRI。目前的出版物显示了他们的长期发作状态和他们的神经心理结果。刺激参数为3.0 V幅值、高频率(130 Hz)、450 μs脉宽、1 min ON和4 min OFF循环刺激。随访时间超过9年。结果:患者癫痫发作明显减少。在两例停止刺激(由于电池耗尽或皮肤腐蚀)的患者中，癫痫发作的减少持续了几个月，但最终癫痫发作缓慢地再次出现。一名患者接受了不间断的刺激，9年来没有癫痫发作。神经心理测试显示，在选择的调制参数下，功能没有下降。结论:双侧海马刺激可有效控制不建议行消融手术的患者的癫痫发作。
Pub Date : 2016-09-30DOI: 10.4172/2472-0895.1000115
R. Andrade-Machado, P. Aguledo-Flórez, L. Salazar-Peláez
Abnormal radial and/or tangential cortical lamination in the temporal lobe cortex associated to Hippocampal Sclerosis (HS) is now classified as focal cortical dysplasia (FCD) type IIIa in the current ILAE FCD classification. In these cases, the temporal cortex may show architectural abnormalities or hypertrophic neurons outside layer V. Five variants of FCD type IIIa have been recognized: HS with architectural abnormalities in the temporal lobe; HS with Temporal Lobe Sclerosis (TLS), HS with TLS and heterotopic neurons in subcortical white matter, HS with TLS and small “lentiform” heterotopias in subcortical white matter; and HS without TLS but with small “lentiform” subcortical heterotopias [1]. One of these types of histological features is frequently found in specimens of patients with temporal lobe epilepsy.
{"title":"Dysplasia Type Ia, Ib and Hippocampal Sclerosis: Is Reelin the Missing Link?","authors":"R. Andrade-Machado, P. Aguledo-Flórez, L. Salazar-Peláez","doi":"10.4172/2472-0895.1000115","DOIUrl":"https://doi.org/10.4172/2472-0895.1000115","url":null,"abstract":"Abnormal radial and/or tangential cortical lamination in the temporal lobe cortex associated to Hippocampal Sclerosis (HS) is now classified as focal cortical dysplasia (FCD) type IIIa in the current ILAE FCD classification. In these cases, the temporal cortex may show architectural abnormalities or hypertrophic neurons outside layer V. Five variants of FCD type IIIa have been recognized: HS with architectural abnormalities in the temporal lobe; HS with Temporal Lobe Sclerosis (TLS), HS with TLS and heterotopic neurons in subcortical white matter, HS with TLS and small “lentiform” heterotopias in subcortical white matter; and HS without TLS but with small “lentiform” subcortical heterotopias [1]. One of these types of histological features is frequently found in specimens of patients with temporal lobe epilepsy.","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"2 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2016-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2472-0895.1000115","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70316811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-09-29DOI: 10.4172/2472-0895.1000114
M. Knežević-Pogančev
Seizures are the most common neurological emergency in the neonatal period. Neonatal seizures are very often named neonatal convulsions even they do not present as convulsions. They are one of the most important diagnostic and therapeutic clinical challenges. They occur during neonatal period, from birth to the end of 28th day of life [1]. Seizures are more common in the neonatal period than at any other time during life. They appear mostly during the first 1-2 days, but usually during first week from birth. Neonatal brain is uniquely vulnerable to seizures. Usually they signify serious damage to the developing immature brain. There is also clear evidence that seizure can damage the brain and exacerbate pre-existing injury. Therefore it is very imperative to identify neonatal seizures and treat them as soon as possible.
{"title":"Neonatal Seizures Characteristics and Prognosis","authors":"M. Knežević-Pogančev","doi":"10.4172/2472-0895.1000114","DOIUrl":"https://doi.org/10.4172/2472-0895.1000114","url":null,"abstract":"Seizures are the most common neurological emergency in the neonatal period. Neonatal seizures are very often named neonatal convulsions even they do not present as convulsions. They are one of the most important diagnostic and therapeutic clinical challenges. They occur during neonatal period, from birth to the end of 28th day of life [1]. Seizures are more common in the neonatal period than at any other time during life. They appear mostly during the first 1-2 days, but usually during first week from birth. Neonatal brain is uniquely vulnerable to seizures. Usually they signify serious damage to the developing immature brain. There is also clear evidence that seizure can damage the brain and exacerbate pre-existing injury. Therefore it is very imperative to identify neonatal seizures and treat them as soon as possible.","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"2 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2016-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2472-0895.1000114","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70316745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-09-02DOI: 10.4172/2472-0895.1000113
J. Alvarez-Alamilla, Velasco Al, Río-Portilla Yd
We evaluate the conflict processing and response of inhibition with the Stroop task in patients with intractable temporal lobe epilepsy who underwent depth electrode amygdala-hippocampal recording to determine focus laterality for further lobectomy and control subjects analyzing the cerebral metabolic response by fMRI. Patients showed longer reaction times and more errors in the Stroop task than control subjects. At the conflict processing and response of inhibition, TLE patients presented difficulties in the executive system regulated by the frontal lobe; they showed dominant brain activation in the right hemisphere frontal lobe and right inferior frontal junction, inferior frontal, superior frontal, middle frontal gyri and ACC. Patients did not show left activation, as observed in control subjects.
{"title":"Conflict Processing and Response Inhibition in Patients with Temporal Lobe Epilepsy: fMRI Study","authors":"J. Alvarez-Alamilla, Velasco Al, Río-Portilla Yd","doi":"10.4172/2472-0895.1000113","DOIUrl":"https://doi.org/10.4172/2472-0895.1000113","url":null,"abstract":"We evaluate the conflict processing and response of inhibition with the Stroop task in patients with intractable temporal lobe epilepsy who underwent depth electrode amygdala-hippocampal recording to determine focus laterality for further lobectomy and control subjects analyzing the cerebral metabolic response by fMRI. Patients showed longer reaction times and more errors in the Stroop task than control subjects. At the conflict processing and response of inhibition, TLE patients presented difficulties in the executive system regulated by the frontal lobe; they showed dominant brain activation in the right hemisphere frontal lobe and right inferior frontal junction, inferior frontal, superior frontal, middle frontal gyri and ACC. Patients did not show left activation, as observed in control subjects.","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"2 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2016-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2472-0895.1000113","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70316728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-08-20DOI: 10.4172/2472-0895.1000112
Hala A. Shaheen, Sayed S. Sayed, L. Daker, Mostafa Magdy
Background: Patients with epilepsy are at higher risk for atherosclerosis which may be due to epilepsy or antiepileptic drugs. The frequency of atherosclerosis in patients with epilepsy was not previously studied in Egypt. Objective of this study: This study aimed to detect the frequency of subclinical atherosclerosis and some vascular risk factors in patients with idiopathic epilepsy and to correlate it to clinical and laboratory data. Patients and methods: Ninety patients with idiopathic epilepsy and 30 ages, sex matched healthy controls subjected to neurological examination, extra cranial carotid duplex, lipid profile, uric acid and CRP levels. Results: The level of high density lipoprotein cholesterol was significantly lower in all patients with epilepsy and those treated with enzyme inducer antiepileptic drugs than the control subjects. Level of serum uric acid was statistically significantly higher in all patients with epilepsy including the untreated patients and those treated with non-enzyme inducer and poly antiepileptic drugs than control subjects. The Common Carotid Artery Intima Media Thickness (CCA IMT) was significantly higher in all patients with epilepsy including untreated and treated patients with enzyme inducer or non-inducer than control. There was a significant positive correlation between the CCA IMT and duration of illness as well as duration of the antiepileptic drugs. Conclusion: Frequency of subclinical atherosclerosis in the patients with idiopathic epilepsy was 63.33%. The epilepsy itself could result in subclinical atherosclerotic changes in the patients with epilepsy, which could be exacerbated by the antiepileptic drugs, particularly the enzyme inducer drugs.
{"title":"Early Atherosclerotic Changes in the Patients with Idiopathic Epilepsy: Egyptian Preliminary Study","authors":"Hala A. Shaheen, Sayed S. Sayed, L. Daker, Mostafa Magdy","doi":"10.4172/2472-0895.1000112","DOIUrl":"https://doi.org/10.4172/2472-0895.1000112","url":null,"abstract":"Background: Patients with epilepsy are at higher risk for atherosclerosis which may be due to epilepsy or antiepileptic drugs. The frequency of atherosclerosis in patients with epilepsy was not previously studied in Egypt. Objective of this study: This study aimed to detect the frequency of subclinical atherosclerosis and some vascular risk factors in patients with idiopathic epilepsy and to correlate it to clinical and laboratory data. Patients and methods: Ninety patients with idiopathic epilepsy and 30 ages, sex matched healthy controls subjected to neurological examination, extra cranial carotid duplex, lipid profile, uric acid and CRP levels. Results: The level of high density lipoprotein cholesterol was significantly lower in all patients with epilepsy and those treated with enzyme inducer antiepileptic drugs than the control subjects. Level of serum uric acid was statistically significantly higher in all patients with epilepsy including the untreated patients and those treated with non-enzyme inducer and poly antiepileptic drugs than control subjects. The Common Carotid Artery Intima Media Thickness (CCA IMT) was significantly higher in all patients with epilepsy including untreated and treated patients with enzyme inducer or non-inducer than control. There was a significant positive correlation between the CCA IMT and duration of illness as well as duration of the antiepileptic drugs. Conclusion: Frequency of subclinical atherosclerosis in the patients with idiopathic epilepsy was 63.33%. The epilepsy itself could result in subclinical atherosclerotic changes in the patients with epilepsy, which could be exacerbated by the antiepileptic drugs, particularly the enzyme inducer drugs.","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"2 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2016-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2472-0895.1000112","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70316665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-08-02DOI: 10.4172/2472-0895.1000E112
R. Andrade-Machado
Many papers are focused in the risk factors associated to temporal lobe epilepsy with HS. Complex febrile seizures, early head traumas, central nervous system infections or mild perinatal hypoxia have been associated with HS [3]. Although not totally elucidated, the molecular basis of HS is better known than the molecular basis of dysplasia type Ia or Ib. Thus, less is known about the complex mechanisms that provoke HS with dysplasia type Ia or Ib (dysplasia type IIIa).
{"title":"Which are the Molecular Basis of Dysplasia Type IIIa, What Should We Know and Why?","authors":"R. Andrade-Machado","doi":"10.4172/2472-0895.1000E112","DOIUrl":"https://doi.org/10.4172/2472-0895.1000E112","url":null,"abstract":"Many papers are focused in the risk factors associated to temporal lobe epilepsy with HS. Complex febrile seizures, early head traumas, central nervous system infections or mild perinatal hypoxia have been associated with HS [3]. Although not totally elucidated, the molecular basis of HS is better known than the molecular basis of dysplasia type Ia or Ib. Thus, less is known about the complex mechanisms that provoke HS with dysplasia type Ia or Ib (dysplasia type IIIa).","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"2 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2016-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2472-0895.1000E112","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70317408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-08-02DOI: 10.4172/2472-0895.1000111
J. Liao, L. Xiong
The Ketogenic Diet (KD) has been used in treatment of epilepsy in mainland China since 2004. Clinical indications of KD include: Glucose Transporter Type 1 (GLUT-1) deficiency, Pyruvate Dehydrogenase Deficiency (PDHD, myoclonus-astatic epilepsy (Doose syndrome), tuberous sclerosis complicated with or without epilepsy, Rett syndrome, Dravet syndrome, infantile spasms, and Landau-Kleffner syndrome, Lafora disease, and super-refractory status epilepticus. The contraindications of KD include: Inborn error of lipid metabolism, porphyria, and patients who are unable to cooperate with the KD. There should be standardized clinical consultation and evaluation before starting KD treatment; and special attention should be paid to selection and preparation of food, and to indication of age and geographic area etc. During the KD treatment, the transition time from ordinary diet to KD often takes 1-2 weeks; and a final 2: 1-4: 1 ketogenic diet ratio will normally produce ketosis of clinical therapeutic effect. The KD could be combined with anticonvulsant treatment. A qualified ketogenic diet therapy means: (1) Proper nutrition and growth with normal nutrition biomarkers; (2) Tasty foods: patients are willing to accept the therapeutic diet; (3) Ideal state of ketosis: urine ketone remains above (+++), blood ketone at about 4.0 mmol/L, blood sugar is controlled at 4.0 mmol/L, ratio of blood sugar/blood ketone is about 1: 1-2: 1; (4) Reasonable balanced food composition, defecate daily and naturally without constipation; (5) No remarkable complication(s). It is recommended that KD could be tried at least for three months continuously. Good responders should maintain the KD therapy for 2 yrs. or so. It often needs to take 3-6 months to return back to a regular diet. KD therapy should be monitored with close follow-ups and assessments. Our extensive experience has confirmed that it is safe in clinical practice.
{"title":"Implementation of Ketogenic Diet Therapy in Refractory Epilepsies","authors":"J. Liao, L. Xiong","doi":"10.4172/2472-0895.1000111","DOIUrl":"https://doi.org/10.4172/2472-0895.1000111","url":null,"abstract":"The Ketogenic Diet (KD) has been used in treatment of epilepsy in mainland China since 2004. Clinical indications of KD include: Glucose Transporter Type 1 (GLUT-1) deficiency, Pyruvate Dehydrogenase Deficiency (PDHD, myoclonus-astatic epilepsy (Doose syndrome), tuberous sclerosis complicated with or without epilepsy, Rett syndrome, Dravet syndrome, infantile spasms, and Landau-Kleffner syndrome, Lafora disease, and super-refractory status epilepticus. The contraindications of KD include: Inborn error of lipid metabolism, porphyria, and patients who are unable to cooperate with the KD. There should be standardized clinical consultation and evaluation before starting KD treatment; and special attention should be paid to selection and preparation of food, and to indication of age and geographic area etc. During the KD treatment, the transition time from ordinary diet to KD often takes 1-2 weeks; and a final 2: 1-4: 1 ketogenic diet ratio will normally produce ketosis of clinical therapeutic effect. The KD could be combined with anticonvulsant treatment. A qualified ketogenic diet therapy means: (1) Proper nutrition and growth with normal nutrition biomarkers; (2) Tasty foods: patients are willing to accept the therapeutic diet; (3) Ideal state of ketosis: urine ketone remains above (+++), blood ketone at about 4.0 mmol/L, blood sugar is controlled at 4.0 mmol/L, ratio of blood sugar/blood ketone is about 1: 1-2: 1; (4) Reasonable balanced food composition, defecate daily and naturally without constipation; (5) No remarkable complication(s). It is recommended that KD could be tried at least for three months continuously. Good responders should maintain the KD therapy for 2 yrs. or so. It often needs to take 3-6 months to return back to a regular diet. KD therapy should be monitored with close follow-ups and assessments. Our extensive experience has confirmed that it is safe in clinical practice.","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"2 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2016-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2472-0895.1000111","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70316625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-08-02DOI: 10.4172/2472-0895.1000110
Jose g. Gonzalez, Isabella Rendon, Marisol Vilamizar, J. Campos, L. González
Neurofibromatrosis type 1 (NF-1) in the most common neurocutaneous disease with a autosomal dominant inheritance pattern and a frequency of 1:3.500 lives births in the general population, regardless of race and sex. NF-1 is a progressive disorder characterized by multiples cafe-au-lait macules, neurofibromas, Lish nodules and others manifestations such as bone abnormalities, short stature, epilepsy, learning disabilities, hyperactivity, with a highly variable and unpredictable expression. Half of its cause comes from different mutations in a gene on chromosome 17, resulting in less or performance neurofibromin having the regulatory domain of tumor activity. The other 50% of the case are caused by de novo mutation. It is an infant 13 months old, no family history of neurofibromatosis, which features six cafe-au lait spots 1 cm of diameter in the legs, chest, auxiliary region a and short stature. The clinical diagnostic criteria of NF-1 were established by The National Institutes Heath Consensus Development Conference in 1987. It has been suggested that pathogenic mutation in the NF-1 gene be added to the list of diagnostic criteria, but not yet accepted. A molecular genetics study showed an alteration in exon 16 c.2540T>G (p.Leu847 Arg). No genetic alterations found in phenotypic parents. After six year of follow-up she was not observed clinical or radiographic abnormalities. The genetic study is mandatory for confirmation of the suspected diagnosis and to monitor de novo mutations that knowledge and phenotypic expression thereof.
{"title":"A New de novo Mutation Associated with Neurofibromatosis (NF-1)","authors":"Jose g. Gonzalez, Isabella Rendon, Marisol Vilamizar, J. Campos, L. González","doi":"10.4172/2472-0895.1000110","DOIUrl":"https://doi.org/10.4172/2472-0895.1000110","url":null,"abstract":"Neurofibromatrosis type 1 (NF-1) in the most common neurocutaneous disease with a autosomal dominant inheritance pattern and a frequency of 1:3.500 lives births in the general population, regardless of race and sex. NF-1 is a progressive disorder characterized by multiples cafe-au-lait macules, neurofibromas, Lish nodules and others manifestations such as bone abnormalities, short stature, epilepsy, learning disabilities, hyperactivity, with a highly variable and unpredictable expression. Half of its cause comes from different mutations in a gene on chromosome 17, resulting in less or performance neurofibromin having the regulatory domain of tumor activity. The other 50% of the case are caused by de novo mutation. It is an infant 13 months old, no family history of neurofibromatosis, which features six cafe-au lait spots 1 cm of diameter in the legs, chest, auxiliary region a and short stature. The clinical diagnostic criteria of NF-1 were established by The National Institutes Heath Consensus Development Conference in 1987. It has been suggested that pathogenic mutation in the NF-1 gene be added to the list of diagnostic criteria, but not yet accepted. A molecular genetics study showed an alteration in exon 16 c.2540T>G (p.Leu847 Arg). No genetic alterations found in phenotypic parents. After six year of follow-up she was not observed clinical or radiographic abnormalities. The genetic study is mandatory for confirmation of the suspected diagnosis and to monitor de novo mutations that knowledge and phenotypic expression thereof.","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"9 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2016-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2472-0895.1000110","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70316612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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