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1. |
Tuberous sclerosis complex |
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Current Opinion in Neurology,
Volume 13,
Issue 2,
2000,
Page 115-119
Steven Sparagana,
E. Roach,
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摘要:
Tuberous sclerosis complex is an autosomal dominant disorder that causes significant complications in multiple organ systems. Both basic science and clinical research on tuberous sclerosis complex have flourished in recent years, improving our understanding of its molecular genetics and pathophysiology. Two tuberous sclerosis complex genes cause nearly identical phenotypes, and great progress has been made towards understanding how each of these genes functions. The recognition of tuberous sclerosis complex improved with revised diagnostic criteria, and the management of many of the complications of tuberous sclerosis complex has improved.
ISSN:1350-7540
出版商:OVID
年代:2000
数据来源: OVID
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2. |
Classical lissencephaly and double cortex (subcortical band heterotopia):LIS1anddoublecortin |
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Current Opinion in Neurology,
Volume 13,
Issue 2,
2000,
Page 121-125
Joseph Gleeson,
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摘要:
Classical lissencephaly and double cortex are genetic neuronal migration disorders associated with mental retardation and epilepsy. In classical lissencephaly, the six-layered cortex is replaced by a four layered structure lacking normal gyri or sulci. In double cortex, a second layer of cortical neurons underlies a normal cortex. A mutation inLIS1ordoublecortincan lead to either classical lissencephaly or double cortex, but becauseLIS1is autosomal anddoublecortinis X-linked (on the X chromosome), the disease inheritance pattern and risk of recurrence for the two genes are distinct. Mutation analysis forLIS1anddoublecortinis essential in determining the etiology of the disease in patients and may be helpful in determining the recurrence risk in families.
ISSN:1350-7540
出版商:OVID
年代:2000
数据来源: OVID
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3. |
Holoprosencephaly: recent advances and new insights |
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Current Opinion in Neurology,
Volume 13,
Issue 2,
2000,
Page 127-132
Stephen Kinsman,
Lauren Plawner,
Jin Hahn,
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摘要:
Holoprosencephaly is a relatively common brain malformation occurring in 5-12/100 000 live births. The astonishing growth in molecular genetic medicine has provided the field of developmental nervous system malformations with new perspectives and tools for unraveling its mysteries and offering better information for clinicians and families. This is particularly evident in the group of complex midline malformations known as holoprosencephaly. Although new molecular findings have shed light on some of the causes and manifestations of this malformation, there remains a need to build on the existing clinical knowledge so that we may develop more effective treatments and improve the quality of life of these patients.
ISSN:1350-7540
出版商:OVID
年代:2000
数据来源: OVID
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4. |
Infection, inflammation and the risk of cerebral palsy |
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Current Opinion in Neurology,
Volume 13,
Issue 2,
2000,
Page 133-139
Karin Nelson,
Rodney Willoughby,
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摘要:
The balance of current evidence indicates that intrauterine exposure to infection and inflammation contributes to the risk of cerebral palsy. The mechanisms involved are not well understood and may differ in very immature versus term infants. Term infants exposed to maternal infection are predisposed to delivery room depression and neonatal encephalopathy.
ISSN:1350-7540
出版商:OVID
年代:2000
数据来源: OVID
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5. |
Mechanisms of neurodegeneration after paediatric brain injury |
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Current Opinion in Neurology,
Volume 13,
Issue 2,
2000,
Page 141-145
Ursula Felderhoff-Mueser,
Chrysanthy Ikonomidou,
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摘要:
Trauma to the developing brain constitutes an unexplored field. The few studies attempting to model and study paediatric head trauma, the leading cause of death and disability in the paediatric population, have revealed interesting aspects and potential targets for future research. One feature unique to the developing brain is overactivation by trauma of ongoing physiological programmed neuronal death (apoptosis). Understanding the underlying biochemical and molecular pathomechanisms may help set new pharmacotherapeutic targets for neuroprotection at an early age.
ISSN:1350-7540
出版商:OVID
年代:2000
数据来源: OVID
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6. |
The Internet and clinical practice of child neurology |
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Current Opinion in Neurology,
Volume 13,
Issue 2,
2000,
Page 147-153
Steven Leber,
Kenneth Mack,
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摘要:
The Internet has great potential for aiding patient care. Concerns regarding patient confidentiality, provider liability, and efficient and fair use of these new resources have triggered specific recommendations for integration of the Internet into our practices.
ISSN:1350-7540
出版商:OVID
年代:2000
数据来源: OVID
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7. |
Epilepsy in a wider world |
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Current Opinion in Neurology,
Volume 13,
Issue 2,
2000,
Page 155-156
William Theodore,
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ISSN:1350-7540
出版商:OVID
年代:2000
数据来源: OVID
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8. |
Genetics of the epilepsies |
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Current Opinion in Neurology,
Volume 13,
Issue 2,
2000,
Page 157-164
Mark Gardiner,
Anna-Elina Lehesjoki,
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摘要:
Molecular genetic analysis of mendelian epilepsies in humans and mice has revealed a diversity of underlying genes in symptomatic epilepsies associated with disordered brain development and neuronal survival. In contrast, the idiopathic mendelian epilepsies have emerged as a new category of channelopathies. New epilepsy loci have been mapped and one new epilepsy gene isolated. Functional analysis of epilepsy genes is providing new insights into the pathways that lead from mutant gene to hyperexcitable neurones. The major challenge for the future is the analysis of genetic epilepsies with complex inheritance.
ISSN:1350-7540
出版商:OVID
年代:2000
数据来源: OVID
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9. |
New antiepileptic drugs and non-pharmacological treatments |
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Current Opinion in Neurology,
Volume 13,
Issue 2,
2000,
Page 165-170
Elinor Ben-Menachem,
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摘要:
Many new drugs and therapies can now be offered to patients with epilepsy. The problem is that we do not know just how much better these new and more expensive therapies are compared with the old ones, nor do we know the full range of side-effects. This review focuses on the major clinical studies that have been published in the past year with emphasis on information as to tolerability and efficacy, especially when there is some information comparing different drugs or therapies. The topics include vigabatrin, lamotrigine, gabapentin, felbamate, topiramate, tiagabine, oxcarbazepine, levetiracetam, vagus nerve stimulation and the ketogenic diet. It is encouraging that some of the newly published double-blinded placebo-controlled studies now include children and the elderly, patient groups that have previously been neglected.
ISSN:1350-7540
出版商:OVID
年代:2000
数据来源: OVID
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10. |
Sleep and epilepsy |
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Current Opinion in Neurology,
Volume 13,
Issue 2,
2000,
Page 171-175
Carl Bazil,
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摘要:
Sleep disturbance in patients with epilepsy is frequently overlooked, but may contribute to decreased daytime functioning and increased seizure activity. Although complicated, the relationship between sleep and epilepsy is becoming clearer. Sleep, and particularly deep non-rapid-eye-movement sleep, increase interictal epileptiform activity. Sleep increases certain seizure types and the rate of generalization of partial seizures, however rapid-eye-movement sleep seems to suppress seizures. Sleep disorders, particularly sleep apnea, exacerbate seizures. Seizures, in turn, can disrupt sleep structure, particularly rapid-eye-movement sleep. An understanding of these relationships is important in seizure control and in maximizing the quality of life for patients with epilepsy.
ISSN:1350-7540
出版商:OVID
年代:2000
数据来源: OVID
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