All individuals with variants in gene PROSC

14 entries on 1 page. Showing entries 1 - 14.
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00265203 Pat PubMed: Kiselev 2019 - F - Sweden - - - - - MD see paper; ..., cardiomyopathy, limb-girdle type muscular dystrophy 1 1 Johan den Dunnen
00395232 FamPatIV1/Pat1 PubMed: Darin 2016 4-generation family, 3 affect3d (F, 2M) M yes Sweden Syria 4m15d - - - epilepsy 4m15d-deceased; birth 32w, no abnormal intrauterine movements, fetal distress, OFC 0.25-0.50; anemia at birth; acidosis; raised blood lactate; no respiratory distress; no neonatal hypertonia; no neonatal hypotonia; abdominal distension, vomiting, or feed intolerance; necrotising enterocolitis; <24h seizures; EEG burst suppression, reduced background activity; tonic seizures, no clonic seizures, no generalized tonic-clonic seizures, myoclonic seizures, lip-smacking and/or grimacing seizures, response to pyridoxine; respiratory depression upon treatment with pyridoxine in neonatal period; acquired microcephaly; minor dysmorphic features 1 1 Johan den Dunnen
00395233 FamPatIV2/Pat2 PubMed: Darin 2016 - M yes Sweden Syria - - - - epilepsy birth 40w, abnormal intrauterine movements, no fetal distress, OFC 0.02-0.09; no anemia at birth; no acidosis; no raised blood lactate; no respiratory distress; neonatal hypertonia; no neonatal hypotonia; no abdominal distension, vomiting, or feed intolerance; <24h seizures; EEG no burst suppression, reduced background activity, focal discharge(s); tonic seizures, no clonic seizures, generalized tonic-clonic seizures, myoclonic seizures, no lip-smacking and/or grimacing seizures, response to pyridoxine; no respiratory depression upon treatment with pyridoxine in neonatal period; speech delay; motor delay; learning difficulties; breakthrough seizures with fever; acquired microcephaly; minor dysmorphic features 1 1 Johan den Dunnen
00395234 FamPatIV6/Pat3 PubMed: Darin 2016 - F yes Sweden Syria - - - - epilepsy birth 36w6d, abnormal intrauterine movements, no fetal distress, OFC 0.09; no anemia at birth; acidosis; no raised blood lactate; no respiratory distress; no neonatal hypertonia; no neonatal hypotonia; no abdominal distension, vomiting, or feed intolerance; <24h seizures; EEG burst suppression, reduced background activity; no clonic seizures, generalized tonic-clonic seizures, no myoclonic seizures, no lip-smacking and/or grimacing seizures, response to pyridoxine; no respiratory depression upon treatment with pyridoxine in neonatal period; speech delay; motor delay; learning difficulties; breakthrough seizures with fever; acquired microcephaly; minor dysmorphic features 1 1 Johan den Dunnen
00395235 Pat4 PubMed: Darin 2016 - F yes United Kingdom (Great Britain) India - - - - epilepsy birth 36w3d, abnormal intrauterine movements, fetal distress, OFC 0.90; anemia at birth; acidosis; raised blood lactate; respiratory distress; neonatal hypertonia; no neonatal hypotonia; abdominal distension, vomiting, or feed intolerance; irritability; <24h seizures; EEG burst suppression; no clonic seizures, generalized tonic-clonic seizures, no myoclonic seizures, lip-smacking and/or grimacing seizures, response to pyridoxine; no respiratory depression upon treatment with pyridoxine in neonatal period; speech delay; motor delay; learning difficulties; no breakthrough seizures with fever; acquired microcephaly; 1 1 Johan den Dunnen
00395236 Pat5 PubMed: Darin 2016 - F no Germany - - - - - epilepsy birth 35w1d, no abnormal intrauterine movements, fetal distress, OFC 0.09; no anemia at birth; acidosis; raised blood lactate; respiratory distress; no neonatal hypertonia; neonatal hypotonia; abdominal distension, vomiting, or feed intolerance; irritability; <24h seizures; EEG burst suppression, multifocal spikes; tonic seizures, no clonic seizures, no generalized tonic-clonic seizures, myoclonic seizures, lip-smacking and/or grimacing seizures, response to pyridoxine; respiratory depression upon treatment with pyridoxine in neonatal period; speech delay; motor delay; learning difficulties; breakthrough seizures with fever; acquired microcephaly; minor dysmorphic features 2 1 Johan den Dunnen
00395237 Pat6 PubMed: Darin 2016 - M yes United Kingdom (Great Britain) India - - - - epilepsy birth 39w, no abnormal intrauterine movements, fetal distress, OFC 0.09; no anemia at birth; acidosis; raised blood lactate; respiratory distress; neonatal hypertonia; no neonatal hypotonia; no abdominal distension, vomiting, or feed intolerance; irritability; <24h seizures; EEG burst suppression,; tonic seizures, clonic seizures, generalized tonic-clonic seizures, no myoclonic seizures, response to pyridoxine; no respiratory depression upon treatment with pyridoxine in neonatal period; speech delay; no motor delay; learning difficulties; breakthrough seizures with fever; acquired microcephaly; no dysmorphic features 1 1 Johan den Dunnen
00395238 Pat7 PubMed: Darin 2016 - M no Italy - - - - - epilepsy birth 39w, no abnormal intrauterine movements, no fetal distress, OFC 0.25-0.50; no anemia at birth; no acidosis; no respiratory distress; no neonatal hypertonia; no neonatal hypotonia; no abdominal distension, vomiting, or feed intolerance; no irritability; EEG no burst suppression, no reduced background activity, no focal discharge(s), no multifocal spikes; no clonic seizures, generalized tonic-clonic seizures, no myoclonic seizures, response to pyridoxine; no speech delay; no motor delay; learning difficulties; breakthrough seizures with fever; no microcephaly; no dysmorphic features 2 1 Johan den Dunnen
00395239 PatA PubMed: Pal 2021 - - - Canada - - - - - epilepsy see paper; ... 1 1 Johan den Dunnen
00395240 PatB PubMed: Pal 2021 - - - Canada - - - - - epilepsy see paper; ... 1 1 Johan den Dunnen
00395241 PatC PubMed: Pal 2021 - - - Canada - - - - - epilepsy see paper; ... 1 1 Johan den Dunnen
00395242 PatD PubMed: Pal 2021 - - - Canada - - - - - epilepsy see paper; ... 1 1 Johan den Dunnen
00395243 PatE PubMed: Pal 2021 - - - Canada - - - - - epilepsy see paper; ... 1 1 Johan den Dunnen
00426163 16SN9500 PubMed: Al-Kasbi 2022 patient, other affecteds in family F - Oman - - - - - epilepsy, ID - 1 1 Johan den Dunnen
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