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alopecia/epileptisk anfald
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Congenital alopecia, seizures, and psychomotor retardation in three siblings.
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Three siblings, devoid of hair at birth, had an unusual autosomal recessive disorder characterized by universal congenital alopecia, microcephaly, seizures, psychomotor retardation, and severe growth failure. Metabolic and chromosome studies were normal. Skin biopsies disclosed immature hair
Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism.
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We report two brothers with congenital total alopecia, mental retardation, childhood convulsions and hypergonadotropic hypogonadism. This association has not previously been reported and probably represents a new autosomal recessive condition.
[A patient with epilepsy, congenital alopecia and mental retardation: combination of atypical absence in waking and nocturnal partial seizure].
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We report a 7-year-old girl with epilepsy, congenital alopecia, and mental retardation. She was hairless at birth. Very scanty hair, eyebrows and eyelashes appeared at 2 years of age. Developmental delay was first recognized at 6 years. Nocturnal partial seizures occurred at 4 years, and atypical
Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage.
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A family is described in which two sibs of a consanguineous marriage have alopecia, convulsions, EEG anomalies and mental retardation. Although the children have significant features resembling those described by Moynahan, this syndrome appears to be different in the mode of inheritance and in other
Progressively intractable seizures, focal alopecia, and hemimegalencephaly.
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We report a 3-year-old boy with the neurocutaneous combination of unilateral alopecia, ipsilateral hemimegalencephaly, and intractable seizures. He was born with an asymmetric hair pattern consisting of absent patches of hair, a small left eyebrow, and less eyelashes on the left eye; he had normal
Alopecia with carbamazepine in two patients with focal seizures.
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IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia.
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Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures,
The importance of drug adverse effects compared with seizure control for people with epilepsy: a discrete choice experiment.
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BACKGROUND
Antiepileptic drugs (AEDs) have been shown to reduce the severity and frequency of seizures for most patients. However, many patients experience adverse effects in order to maintain seizure control.
METHODS
A stated preference discrete choice experiment (DCE) was used to explore the
Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.
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Alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome; OMIM 203550) is a very rare genetic disorder with distinct features. To our knowledge, there have been four cases documented to date. In addition, another three patients, previously described as having IFAP syndrome (OMIM
Magnesium deficiency affects the pentylenetetrazol-induced convulsions in magnesium-deprived rats.
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A group of 11 young albino rats was fed with a Mg2+ free diet. After a few days, the animals showed typical signs of Mg2+ deficiency, consisting in skin vasodilation, red conjunctiva and hair loss. Pentylenetetrazol (50 mg/kg i.p.) injected in these rats, 6 and 12 days after the beginning of the
A rare case of aplasia cutis congenita with refractory seizures.
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Aplasia cutis congenita is a heterogeneous disorder involving symmetric focal absence of skin at birth. A 1-year-old boy presented with the clinical manifestation of intractable complex partial seizures and development delay; physical examination revealed two fibrotic scars and alopecia. His parents
IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia.
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Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures,
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.
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Two brothers with ichthyosis follicularis, noncicatricial universal alopecia, photophobia, hyerkeratotic psoriasis-like lesions, nails dystrophy, inguineal herniae, cryptorchidism, short stature, seizures, and psychomotor developmental delay are described. These features correspond to the ichthyosis
The cognitive effects of oxcarbazepine versus carbamazepine or valproate in newly diagnosed children with partial seizures.
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OBJECTIVE
To investigate the effect of oxcarbazepine against standard antiepileptic drug therapy (carbamazepine and valproate) on cognitive function in children and adolescents (aged 6 to <17 years) with newly diagnosed partial seizures.
METHODS
A multicentre, open-label, randomised, active-control,
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
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The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10 males so far. We report on a man with congenital ichthyosis and alopecia with apparently normal development in early infancy. Photophobia and generalized myoclonicastatic
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