Read more about the article Epileptic seizures followed by nonepileptic manifestations: a video-EEG diagnosis.
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Epileptic seizures followed by nonepileptic manifestations: a video-EEG diagnosis.

Abstract To present and discuss a case of a woman who for many years was presumed to have nonepileptic seizures (NES), but proved to actually have both electrical and non-electrical…

Continue ReadingEpileptic seizures followed by nonepileptic manifestations: a video-EEG diagnosis.
Read more about the article Induction of central-type sleep apnea by vagus nerve stimulation.
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Induction of central-type sleep apnea by vagus nerve stimulation.

Abstract Vagus nerve stimulation (VNS) is an acceptable and effective adjunctive therapy for pharmacoresistant epilepsy. It is generally well tolerated and the most frequent side effects reported include respiratory dysfunction.…

Continue ReadingInduction of central-type sleep apnea by vagus nerve stimulation.
Read more about the article Hb Agrinio [alpha29(B10)Le–>uPro (alpha2)] in combination with –(MED I). Results in a severe form of Hb H disease.
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Hb Agrinio [alpha29(B10)Le–>uPro (alpha2)] in combination with –(MED I). Results in a severe form of Hb H disease.

Abstract We report two cases of compound heterozygote patients for the --(MED I) and Hb Agrinio [alpha29(B10)Le-->uPro (alpha2)] anomalies in two unrelated Greek Cypriot families. The first patient had a…

Continue ReadingHb Agrinio [alpha29(B10)Le–>uPro (alpha2)] in combination with –(MED I). Results in a severe form of Hb H disease.
Read more about the article A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
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A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.

Abstract Senataxin (chromosome 9q34) was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA), termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2) and characterized…

Continue ReadingA novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
Read more about the article Association of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp–>Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu–>Pro (alpha2)] in a Greek family.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

Association of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp–>Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu–>Pro (alpha2)] in a Greek family.

Abstract Hb Setif is a relatively rare, mildly unstable alpha2-globin hemoglobin (Hb) variant first described in an Algerian family, and subsequently in various populations of the Mediterranean region and the…

Continue ReadingAssociation of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp–>Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu–>Pro (alpha2)] in a Greek family.
Read more about the article Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.
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Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.

Abstract Ethylmalonic encephalopathy (EE, OMIM # 602473) is an autosomal recessive metabolic disorder of infancy affecting the brain, the gastrointestinal tract and peripheral vessels. It is caused by a defect…

Continue ReadingEthylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.
Read more about the article RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.
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RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.

Abstract RET germline mutations predispose to the development of inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN2). Several variants of the RET proto-oncogene including G691S and S904S have been…

Continue ReadingRET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.
Read more about the article Sleep hypoventilation syndrome and respiratory failure due to multifocal motor neuropathy with conduction block.
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Sleep hypoventilation syndrome and respiratory failure due to multifocal motor neuropathy with conduction block.

Abstract Sleep hypoventilation syndrome and respiratory failure have been reported in association with a diverse spectrum of neuromuscular disorders. We report a patient with multifocal motor neuropathy with conduction block…

Continue ReadingSleep hypoventilation syndrome and respiratory failure due to multifocal motor neuropathy with conduction block.
Read more about the article KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.
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KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.

Abstract Heterozygous mutations of the KCNJ11 gene encoding the Kir6.2 subunit of the ATP-sensitive potassium channel (K(ATP) channel) of the pancreatic β-cell cause diabetes in about 30-60% of all permanent…

Continue ReadingKCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.
Read more about the article Recurrence of complement factor H-related protein 5 nephropathy in a renal transplant.
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Recurrence of complement factor H-related protein 5 nephropathy in a renal transplant.

Abstract Complement factor H-related protein 5 (CFHR5) nephropathy is a familial renal disease endemic in Cyprus. It is characterized by persistent microscopic hematuria, synpharyngitic macroscopic hematuria and progressive renal impairment.…

Continue ReadingRecurrence of complement factor H-related protein 5 nephropathy in a renal transplant.